SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked). SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which has characteristic of a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Characterized by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastroesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastroesophageal reflux, and cough triggered by noxious odors or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Characterised by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastrooesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastrooesophageal reflux, and cough triggered by noxious odours or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibres. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibers. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare vascular disease characterised by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischaemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked). SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which has characteristic of a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Characterized by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastroesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastroesophageal reflux, and cough triggered by noxious odors or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Characterised by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastrooesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastrooesophageal reflux, and cough triggered by noxious odours or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibres. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibers. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare vascular disease characterised by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischaemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Dizziness experienced on lying down. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare slow growing neuronal tumour seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterised by hypotonic hyponatraemia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatraemic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic congenital secondary polycythaemia disorder characterised by increased haemoglobin, haematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnoea and/or plethora. Patients present an increased risk of haemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare hereditary hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibres characterised by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fibre density. Large fibre functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fiber density. Large fiber functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign highly vascularized tumor of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign highly vascularised tumour of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of haemangioblastoma arising outside of the central nervous system have been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Dizziness experienced on lying down. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare slow growing neuronal tumour seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterised by hypotonic hyponatraemia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatraemic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic congenital secondary polycythaemia disorder characterised by increased haemoglobin, haematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnoea and/or plethora. Patients present an increased risk of haemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare hereditary hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibres characterised by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fibre density. Large fibre functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fiber density. Large fiber functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign highly vascularized tumor of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign highly vascularised tumour of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of haemangioblastoma arising outside of the central nervous system have been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system percutaneous procedure that observes for evidence of hypersensitivity. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Syndrome that is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Syndrome that is characterised by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A substance that modifies the immune response or the functioning of the immune system. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system percutaneous procedure that observes for evidence of hypersensitivity. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Syndrome that is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Syndrome that is characterised by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A substance that modifies the immune response or the functioning of the immune system. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Known to have allergic reactions to particular substance(s) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 An abnormal inflammatory skin condition resulting from exposure to ultraviolet light, most commonly sunlight. May result from phototoxic or photoallergic reactions or both. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Lack of ability to exercise restraint or control over feelings, emotions or reactions. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Gingival disease with an aetiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Gingival disease with an etiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterised by extensive necrosis and detachment of the epidermis. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterized by extensive necrosis and detachment of the epidermis. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Type 1 lepra reactions or reversal reactions are associated with the development of M. leprae antigenic determinants. They are delayed hypersensitivity reactions and may occur in both paucibacillary leprosy and multibacillary leprosy. (WHO) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Type 2 lepra reactions (erythema nodosum leprosum), are associated with circulation and tissue deposition of immune complexes. They are an antibody response or immune complex response to M. leprae antigenic determinants which occur only in multibacillary leprosy. (WHO) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting). SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A rare malignant tumor of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A rare malignant tumour of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumour develops in the peritoneum and spreads to the abdomen, pelvis and ovaries. Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Known to have allergic reactions to particular substance(s) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 An abnormal inflammatory skin condition resulting from exposure to ultraviolet light, most commonly sunlight. May result from phototoxic or photoallergic reactions or both. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Lack of ability to exercise restraint or control over feelings, emotions or reactions. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Gingival disease with an aetiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Gingival disease with an etiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterised by extensive necrosis and detachment of the epidermis. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterized by extensive necrosis and detachment of the epidermis. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Type 1 lepra reactions or reversal reactions are associated with the development of M. leprae antigenic determinants. They are delayed hypersensitivity reactions and may occur in both paucibacillary leprosy and multibacillary leprosy. (WHO) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Type 2 lepra reactions (erythema nodosum leprosum), are associated with circulation and tissue deposition of immune complexes. They are an antibody response or immune complex response to M. leprae antigenic determinants which occur only in multibacillary leprosy. (WHO) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting). SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 Congenital abnormal vertical shortness of eyelids SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare autosomal dominant heart-hand syndrome with characteristics of bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. It has been described in four family members from three generations, with no new cases having been reported since 1981. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare non-syndromic congenital heart malformation with characteristics of the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations and chest pain and exercise intolerance. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse). SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalized, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple naevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnoea. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A rare malignant tumor of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A rare malignant tumour of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumour develops in the peritoneum and spreads to the abdomen, pelvis and ovaries. Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 Congenital abnormal vertical shortness of eyelids SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare autosomal dominant heart-hand syndrome with characteristics of bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. It has been described in four family members from three generations, with no new cases having been reported since 1981. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare non-syndromic congenital heart malformation with characteristics of the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations and chest pain and exercise intolerance. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse). SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalized, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple naevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnoea. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare intellectual disability syndrome characterised by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioural abnormalities (e.g. anxiety, stereotyped movements) and absence or generalised tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 Isolated non-familial catecholamin-producing tumours arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumours are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumour, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 Isolated non-familial catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioural problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare non-syndromic cerebellar malformation characterised by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioural disorders such as attention deficit hyperactivity disorder and generalised anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic developmental defect during embryogenesis syndrome with characteristics of severe intellectual disability, distinct dysmorphic facial features (including triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism to a milder phenotype with less severe growth restriction. Other reported features include skeletal findings (for example scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and anxiety. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the LARP7 gene on chromosome 4q25. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioural changes including apathy, anxiety and delusions. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes including apathy, anxiety and delusions. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 Fatigue refers to a lack of energy, and it may be either acute or chronic. Fatigue may result from exertion, stress, and a wide variety of underlying medical conditions, including infections, malignancies, autoimmune disorders, anxiety, and depression. It may also be an adverse effect of medical treatments such as chemotherapy. Depending on the underlying cause, fatigue may or may not be relieved by rest. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A safeguarding concern is a worry, anxiety or suspicion that a child or adult may be at risk of abuse or neglect, or that the individual may already have been harmed by a caregiver, institution or someone else they have contact with. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic disease with characteristics of congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, high arched palate). Female carriers exhibit a variable milder phenotype. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioural alterations (autism, hyperactivity, or anxiety). SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety). SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability characterized by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioral problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioural problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioural problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare endocrine disease characterised by early onset of polycythaemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay and intellectual disability, overweight or obesity, behavioural abnormalities (including hyperactivity, aggressive behaviour, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioural problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare intellectual disability syndrome characterised by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioural abnormalities (e.g. anxiety, stereotyped movements) and absence or generalised tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. The disease is caused by homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 Isolated non-familial catecholamin-producing tumours arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumours are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumour, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 Isolated non-familial catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioural problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare non-syndromic cerebellar malformation characterised by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioural disorders such as attention deficit hyperactivity disorder and generalised anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic developmental defect during embryogenesis syndrome with characteristics of severe intellectual disability, distinct dysmorphic facial features (including triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism to a milder phenotype with less severe growth restriction. Other reported features include skeletal findings (for example scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and anxiety. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the LARP7 gene on chromosome 4q25. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioural changes including apathy, anxiety and delusions. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic neurodegenerative disease with characteristics of dementia and mild parkinsonism with poor levodopa response. Presenting clinical manifestations are memory problems, short attention span, disorientation, language impairment, rigidity, bradykinesia, postural instability and behavioral changes including apathy, anxiety and delusions. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 Fatigue refers to a lack of energy, and it may be either acute or chronic. Fatigue may result from exertion, stress, and a wide variety of underlying medical conditions, including infections, malignancies, autoimmune disorders, anxiety, and depression. It may also be an adverse effect of medical treatments such as chemotherapy. Depending on the underlying cause, fatigue may or may not be relieved by rest. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A safeguarding concern is a worry, anxiety or suspicion that a child or adult may be at risk of abuse or neglect, or that the individual may already have been harmed by a caregiver, institution or someone else they have contact with. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic disease with characteristics of congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, high arched palate). Female carriers exhibit a variable milder phenotype. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioural alterations (autism, hyperactivity, or anxiety). SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety). SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability characterized by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioral problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioural problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples and hirsutism. Behavioural problems tend to be dominated by attention deficit hyperactivity disorder, but anxiety, aggressive outbursts and autistic features may also present. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare endocrine disease characterised by early onset of polycythaemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay and intellectual disability, overweight or obesity, behavioural abnormalities (including hyperactivity, aggressive behaviour, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioural problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare X-linked multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome with characteristics of developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. SNOMED Terms for : anxiety 3772 725146001 4098 734022008 4698 763773007 4699 763773007 5040 765143008 5041 765143008 5101 765434008 5102 765434008 5163 766709000 5164 766709000 5363 768843007 5456 770564004 5580 770902008 5982 774069007 5983 774069007 6541 84229001 6562 784371009 6563 784371009 7955 1010196001 8772 1172692006 9024 1186730002 9025 1186730002 9078 1187247007 9079 1187247007 9187 1197217007 9188 1197217007 9423 1208987006 9424 1208987006 9636 1229872004 9637 1229872004 9644 1229882003 Name: conceptId, dtype: int64 A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. In symptomatic cases, clinical features and signs may include decreased activity and increased sleep, feeding difficulty, constipation and prolonged jaundice. Slow linear growth and developmental delay may also occur. Some familial cases have been reported suggesting genetic factors but to date none have been identified in humans. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality with manifestations of jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Prevalence of this form is not known. Presents with moderate to severe anemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Dominant beta-thalassaemia is a form of beta-thalassaemia resulting in moderate to severe anaemia. Prevalence of this form is not known. Presents with moderate to severe anaemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterised by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anaemia and often palpable spleen. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinaemia, and lactic acidaemia. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Syndrome with characteristics of dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. It has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Klatskin tumor is an extra-hepatic cholangiocarcinoma arising in the junction of the main right or left hepatic ducts to form the common hepatic duct. Klatskin tumors occur in the hepatic duct bifurcation. Patients are usually asymptomatic until advanced stages of the disease where jaundice is the principle manifestation. Abdominal pain, weight loss and malaise are other manifestations. Metastasis to regional lymph nodes is frequent. In 90% of cases Klatskin tumors occur sporadically but certain risk factors have been associated with the disease. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Klatskin tumour is an extra-hepatic cholangiocarcinoma arising in the junction of the main right or left hepatic ducts to form the common hepatic duct. Klatskin tumours occur in the hepatic duct bifurcation. Patients are usually asymptomatic until advanced stages of the disease where jaundice is the principle manifestation. Abdominal pain, weight loss and malaise are other manifestations. Metastasis to regional lymph nodes is frequent. In 90% of cases Klatskin tumours occur sporadically but certain risk factors have been associated with the disease. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23). SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare genetic developmental defect during embryogenesis syndrome with the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial carcinoma arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland. The disease has characteristics of nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (for example primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumor of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or haematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare hepatic and biliary tract tumour, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterised by a substantial keratinisation with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumour and symptoms of adjacent organ involvement. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare primary malignant liver and biliary tract epithelial neoplasm originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare primary malignant liver and biliary tract epithelial neoplasm originating in the intrahepatic bile duct epithelium histologically characterised by the presence of keratinisation and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An extremely rare epithelial neoplasm of the liver and biliary tract which presents with heterogenous histological findings and not yet fully defined clinicopathological characteristics. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare pancreatobiliary disease characterised by marked duct-centred lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare genetic disorder of metabolite absorption or transport with characteristics of persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumour of the exocrine pancreas, histologically characterised by presence of keratinisation and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare carcinoma of the pancreas with characteristics of a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting and weight loss. One-third of the patients are asymptomatic. The neoplasm has low malignant potential but can invade locally. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goitre, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalise without treatment within 3 weeks of birth. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare malignant epithelial neoplasm of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare malignant epithelial tumor of the pancreas characterized, macroscopically by a usually large well-circumscribed fully or partially encapsulated solid mass often with hemorrhage, necrosis and cystic changes in any portion of the pancreas. Histological characteristics are neoplastic cells with variable degrees of differentiation and morphology ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or less commonly jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare malignant epithelial tumour of the pancreas characterised, macroscopically by a usually large well-circumscribed fully or partially encapsulated solid mass often with haemorrhage, necrosis and cystic changes in any portion of the pancreas. Histological characteristics are neoplastic cells with variable degrees of differentiation and morphology ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or less commonly jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare very aggressive neuroendocrine neoplasm with the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites. Paraneoplastic syndromes such as Cushing syndrome, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trelat sign may be associated. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumor of the pancreas with histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (less than 3 centimeters) are usually asymptomatic while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumour of the pancreas with histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localised to the body or tail of the pancreas. Clinically, small tumours (less than 3 centimetres) are usually asymptomatic while large tumours typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, haemobilia and diabetes mellitus. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An infantile hereditary disorder of bile formation that is hepatocellular in origin and associated with extrahepatic features. Onset occurs mostly during infancy with clinical signs of cholestasis with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Caused by mutations in the ATP8B1 gene (18q21-22) encoding the FIC1 protein expressed at the canalicular membrane of hepatocytes as well as in other epithelia. Transmission is autosomal recessive. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells has multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. Pancreatoblastoma can occur in any part of the pancreas. It is a malignant embryonal neoplasm that seems to recapitulate the embryogenesis of the pancreas, presumably because it originates from the pluripotent pancreatic stem cells during foregut development. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare carcinoma of the liver characterised by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumours are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumour, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumours generally have poor prognosis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare aggressive malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background. The main presenting manifestations are abdominal mass with pain, swelling and discomfort, weight loss, and anorexia. Splenomegaly, nausea, vomiting and jaundice are less commonly observed. Metastases to the mediastinal lymph nodes, lungs, brain and bone marrow are common in advanced disease May be associated with congenital diseases such as biliary atresia. The Wnt/beta-catenin pathway is frequently activated via stabilizing mutations in beta-catenin: some patients have been found to have mutations in the CTNNB1 (3p21) and MET (7q31) genes. TP53 (17p13.1) gene and the TERT promoter are mutated in 25-30% and 60% of cases respectively. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare aggressive malignant hepatic tumour arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background. The main presenting manifestations are abdominal mass with pain, swelling and discomfort, weight loss, and anorexia. Splenomegaly, nausea, vomiting and jaundice are less commonly observed. Metastases to the mediastinal lymph nodes, lungs, brain and bone marrow are common in advanced disease May be associated with congenital diseases such as biliary atresia. The Wnt/beta-catenin pathway is frequently activated via stabilising mutations in beta-catenin: some patients have been found to have mutations in the CTNNB1 (3p21) and MET (7q31) genes. TP53 (17p13.1) gene and the TERT promoter are mutated in 25-30% and 60% of cases respectively. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare genetic parenchymatous liver disease with characteristics of infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare genetic biliary tract disease with characteristics of severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits and intralobular bile-pigment accumulations. Some patients may also have renal disease. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare endocrine disease characterised by neonatal hypoglycaemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. In symptomatic cases, clinical features and signs may include decreased activity and increased sleep, feeding difficulty, constipation and prolonged jaundice. Slow linear growth and developmental delay may also occur. Some familial cases have been reported suggesting genetic factors but to date none have been identified in humans. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality with manifestations of jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. Prevalence of this form is not known. Presents with moderate to severe anemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Dominant beta-thalassaemia is a form of beta-thalassaemia resulting in moderate to severe anaemia. Prevalence of this form is not known. Presents with moderate to severe anaemia, jaundice and splenomegaly. Rare mutations in the beta-globin HBB gene result in synthesis of extremely unstable beta-globin variants which precipitate in erythroid precursors causing ineffective erythropoiesis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 The association of biliary atresia and splenic abnormalities. Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterised by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anaemia and often palpable spleen. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A newly discovered form of congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A newly discovered form of congenital dyserythropoietic anaemia characterised by ineffective erythropoiesis and haemolysis that leads to severe anaemia at birth. Only 4 cases have been reported to date. Hepatomegaly, splenomegaly, jaundice, hypertrophic cardiomyopathy, and occasional dysmorphic features have also been reported. Caused by mutations in the KLF1 gene (19p13.2), encoding an erythroid transcription factor that plays a fundamental role in the expression of globin genes and also additional genes that may be involved in erythropoiesis. Inherited in an autosomal dominant manner. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, with clinical characteristics of transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinaemia, and lactic acidaemia. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Syndrome with characteristics of dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. It has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Klatskin tumor is an extra-hepatic cholangiocarcinoma arising in the junction of the main right or left hepatic ducts to form the common hepatic duct. Klatskin tumors occur in the hepatic duct bifurcation. Patients are usually asymptomatic until advanced stages of the disease where jaundice is the principle manifestation. Abdominal pain, weight loss and malaise are other manifestations. Metastasis to regional lymph nodes is frequent. In 90% of cases Klatskin tumors occur sporadically but certain risk factors have been associated with the disease. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Klatskin tumour is an extra-hepatic cholangiocarcinoma arising in the junction of the main right or left hepatic ducts to form the common hepatic duct. Klatskin tumours occur in the hepatic duct bifurcation. Patients are usually asymptomatic until advanced stages of the disease where jaundice is the principle manifestation. Abdominal pain, weight loss and malaise are other manifestations. Metastasis to regional lymph nodes is frequent. In 90% of cases Klatskin tumours occur sporadically but certain risk factors have been associated with the disease. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare complex ichthyosis syndrome with characteristics of scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. The ichthyosis presents with diffuse white scales sparing the skin folds and is accompanied by scalp hypotrichosis, cicatricial alopecia, and sparse eyelashes/eyebrows. Additional manifestations may include oligodontia, hypodontia and enamel dysplasia. All patients present with neonatal sclerosing cholangitis with jaundice and pruritus, hepatomegaly and biochemical cholestasis. Caused by a mutation in the CLDN1 gene on chromosome 3q28 coding for the tight junction protein claudin-1. Autosomal recessive pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23). SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare genetic developmental defect during embryogenesis syndrome with the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial carcinoma arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland. The disease has characteristics of nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (for example primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumor of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or haematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare hepatic and biliary tract tumour, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterised by a substantial keratinisation with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumour and symptoms of adjacent organ involvement. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare primary malignant liver and biliary tract epithelial neoplasm originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare primary malignant liver and biliary tract epithelial neoplasm originating in the intrahepatic bile duct epithelium histologically characterised by the presence of keratinisation and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An extremely rare epithelial neoplasm of the liver and biliary tract which presents with heterogenous histological findings and not yet fully defined clinicopathological characteristics. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, high metastatic potential and a rapid clinical course are typically associated. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare pancreatobiliary disease characterised by marked duct-centred lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare genetic disorder of metabolite absorption or transport with characteristics of persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumor of the exocrine pancreas, histologically characterized by presence of keratinization and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumour of the exocrine pancreas, histologically characterised by presence of keratinisation and/or intracellular bridges and lympho vascular and perineural invasion, as well as high metastatic potential. Presents with upper abdominal and back pain, anorexia, weight loss, nausea, vomiting and jaundice. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare carcinoma of the pancreas with characteristics of a variable combination of nonspecific signs and symptoms, such as abdominal pain, jaundice, abdominal fullness, anorexia, nausea, vomiting and weight loss. One-third of the patients are asymptomatic. The neoplasm has low malignant potential but can invade locally. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goitre, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalise without treatment within 3 weeks of birth. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare malignant epithelial neoplasm of the pancreas composed of cystic structures lined by glycogen-rich clear cells, associated with local invasiveness often involving the spleen, duodenum and/or stomach and metastatic spread to the liver, peritoneum and/or lymph nodes. Presenting symptoms are variable and usually non-specific and include abdominal and/or flank pain, palpable abdominal mass, upper gastrointestinal bleeding, jaundice or abnormal serum liver enzymes, vomiting, anorexia and/or weight loss. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare malignant epithelial tumor of the pancreas characterized, macroscopically by a usually large well-circumscribed fully or partially encapsulated solid mass often with hemorrhage, necrosis and cystic changes in any portion of the pancreas. Histological characteristics are neoplastic cells with variable degrees of differentiation and morphology ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or less commonly jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A very rare malignant epithelial tumour of the pancreas characterised, macroscopically by a usually large well-circumscribed fully or partially encapsulated solid mass often with haemorrhage, necrosis and cystic changes in any portion of the pancreas. Histological characteristics are neoplastic cells with variable degrees of differentiation and morphology ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or less commonly jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare very aggressive neuroendocrine neoplasm with the presence of nodular mass(es) arising from the neck, fundus or body of the gallbladder or by diffuse thickening of the gallbladder wall. Patients may be asymptomatic (diagnosed incidentally after surgical resection of the gallbladder) or may present epigastric pain, abdominal mass and/or non-specific symptoms, such as nausea, jaundice, flushing, cough, wheezing, ascites. Paraneoplastic syndromes such as Cushing syndrome, acanthosis nigricans, bullous pemphigoid, dermatomyositis and the Leser-Trelat sign may be associated. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumor of the pancreas with histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. Clinically, small tumors (less than 3 centimeters) are usually asymptomatic while large tumors typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, hemobilia and diabetes mellitus. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare epithelial tumour of the pancreas with histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localised to the body or tail of the pancreas. Clinically, small tumours (less than 3 centimetres) are usually asymptomatic while large tumours typically present obstructive jaundice, a palpable abdominal mass, and may associate portal hypertension, haemobilia and diabetes mellitus. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 An infantile hereditary disorder of bile formation that is hepatocellular in origin and associated with extrahepatic features. Onset occurs mostly during infancy with clinical signs of cholestasis with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Caused by mutations in the ATP8B1 gene (18q21-22) encoding the FIC1 protein expressed at the canalicular membrane of hepatocytes as well as in other epithelia. Transmission is autosomal recessive. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare neoplastic gastroenterologic disease most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting, abdominal pain, jaundice, and weight loss/failure to thrive. Histologically, this malignant epithelial pancreatic neoplasm of the exocrine cells has multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. Pancreatoblastoma can occur in any part of the pancreas. It is a malignant embryonal neoplasm that seems to recapitulate the embryogenesis of the pancreas, presumably because it originates from the pluripotent pancreatic stem cells during foregut development. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare carcinoma of the liver characterised by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumours are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumour, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumours generally have poor prognosis. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare aggressive malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background. The main presenting manifestations are abdominal mass with pain, swelling and discomfort, weight loss, and anorexia. Splenomegaly, nausea, vomiting and jaundice are less commonly observed. Metastases to the mediastinal lymph nodes, lungs, brain and bone marrow are common in advanced disease May be associated with congenital diseases such as biliary atresia. The Wnt/beta-catenin pathway is frequently activated via stabilizing mutations in beta-catenin: some patients have been found to have mutations in the CTNNB1 (3p21) and MET (7q31) genes. TP53 (17p13.1) gene and the TERT promoter are mutated in 25-30% and 60% of cases respectively. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare aggressive malignant hepatic tumour arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background. The main presenting manifestations are abdominal mass with pain, swelling and discomfort, weight loss, and anorexia. Splenomegaly, nausea, vomiting and jaundice are less commonly observed. Metastases to the mediastinal lymph nodes, lungs, brain and bone marrow are common in advanced disease May be associated with congenital diseases such as biliary atresia. The Wnt/beta-catenin pathway is frequently activated via stabilising mutations in beta-catenin: some patients have been found to have mutations in the CTNNB1 (3p21) and MET (7q31) genes. TP53 (17p13.1) gene and the TERT promoter are mutated in 25-30% and 60% of cases respectively. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare genetic parenchymatous liver disease with characteristics of infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare genetic biliary tract disease with characteristics of severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits and intralobular bile-pigment accumulations. Some patients may also have renal disease. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare endocrine disease characterised by neonatal hypoglycaemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated. SNOMED Terms for : undice 979 699189004 1886 715734006 2070 716338001 2074 716379000 2158 716682000 2159 716682000 2277 717156002 2278 717156002 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2742 719453009 2743 719453009 2933 720461006 2934 720461006 3097 717773005 3160 253017000 3162 253017000 3377 722375007 3583 723623002 3584 723623002 3689 724278007 3825 725462002 4738 763891005 5096 765741003 5187 766757006 5188 766757006 5244 766978002 5245 766978002 5520 770684008 5521 770684008 5522 770685009 5704 771446000 5705 771446000 5855 773549000 6122 770602005 6123 770602005 6167 782697005 6378 783177006 6379 783177006 6471 783706007 6472 703540008 6473 703540008 6507 783771003 6508 783771003 6688 785824001 6693 785879009 6694 785879009 8343 74162007 8344 1155841005 8351 1155913007 8387 189814006 9182 1197204009 9183 1197204009 9331 1208349005 9332 1208349005 9395 1208726006 9513 1220580006 9770 1231283007 9771 1231283007 Name: conceptId, dtype: int64 A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma adrenocorticotropic hormone (ACTH) and cortisol levels in the absence of structural pituitary defects. Low partial growth hormone deficiency is sometimes associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of tooth, primarily at the cervical region. Usually wedge-shaped lesions with sharp-line angles, but sometimes circular invaginations on occlusal surfaces. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of the tooth structure, primarily at the cervical region. These are usually wedge-shaped lesions with sharp-line angles, but sometimes are circular invaginations on occlusal surfaces. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of the tooth structure, primarily at the cervical region. These are usually wedge-shaped lesions with sharp-line angles, but sometimes are circular invaginations on occlusal surfaces. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Mental and physical fatigue from prolonged or difficult treatment. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare condition characterised by generalised, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminum-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminum hydroxide and may occur up to 10 years following vaccination. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminium-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminium hydroxide and may occur up to 10 years following vaccination. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome. The clinical course is divided into three phases. The first phase (lasting a few weeks) has characteristics of rapidly progressive muscle weakness. It is symmetrical and may cause acute neuromuscular paralysis. Sensory disturbances, intense pains, and cramps may also occur. During the second phase (variable duration), symptoms become stable but other manifestations (cardiac arrhythmias, hyper/hypotension and gastric dysmotility) may occur. During the third (recovery) phase, lasting a few months or longer, symptoms slowly regress. Many patients have residual findings (weakness, sensory disturbances, fatigue or pain) for many months or even years. In the majority of cases, an infectious disease precedes the onset of limb weakness, with Campylobacter jejuni infection being the most frequent initiating event. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A non-syndromic, microcytic/hypochromic sideroblastic anaemia, present from early infancy and characterised by severe microcytic anaemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterised individuals have been reported. Clinical features are those of anaemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycaemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterized individuals have been reported. Clinical features are those of anemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An extremely rare autosomal recessive glycine metabolism disorder characterised clinically in the single reported case to date by muscle fatigue and a fish-like odour. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A form of paroxysmal dyskinesia with characteristics of painless attacks of dystonia of the extremities triggered by prolonged physical activities. The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. The attacks last between 5 minutes and 2 hours and are typically restricted to the exercised limbs. The dystonic movements are usually bilateral and are aggravated by cold, psychological stress, fatigue and lack of sleep. The pathophysiology is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 gene (1p34.2). Sporadic and familial cases with autosomal dominant mode of inheritance have been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterised by fasting hypoglycaemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonaemia but without hyperalaninaemia or hyperlactacidaemia. After meals, major hyperglycaemia associated with lactate and alanine increase and hyperlipidaemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A form of limb-girdle muscular dystrophy with characteristics of childhood-onset progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly ocular features (e.g. myopia, cataract) and seizures. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the TRAPPC11 gene on chromosome 4q35. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anaemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of renal cell carcinoma arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with haematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes may predispose to the development of papillary renal cell carcinoma. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of renal cell carcinoma arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes may predispose to the development of papillary renal cell carcinoma. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts harbouring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare non-syndromic congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare non-syndromic congenital heart malformation characterised by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnoea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of acute myeloid leukaemia with recurrent cytogenetic abnormalities characterised by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anaemia, thrombocytopenia and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harbouring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include haematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anaemia, fatigue and fever. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An extremely rare malignant epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An extremely rare malignant epithelial tumour of the small intestine (most often localised in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localisation of the tumour. Gastrointestinal bleeding and perforation may occur in advanced cases. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukemia. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare malignant haematologic disease characterised by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukaemia. Patients present with signs and symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms such as fever, nausea, vomiting, fatigue prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (pneumonia, bronchiolitis, pharyngitis). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukaemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukaemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare juvenile idiopathic inflammatory myopathy characterised by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localised scleroderma, diabetes). Cardiac involvement has been reported in some patients. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare epithelial tumor of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or haematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare lymphoid haemopathy defined as single or multiple tumours in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anaemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukaemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare cardiac malformation characterised by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnoea or respiratory distress. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An acute encephalopathy with inflammation-mediated status epilepticus characterised by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioural changes or hallucinations. Brain MRI abnormalities and abnormal findings in cerebrospinal fluid, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in cerebrospinal fluid, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare urogenital disease characterised by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhoea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic multisystemic chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic multisystemic chronic autoimmune disease characterised by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, haematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycaemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A type of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A haematological neoplasm characterised by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anaemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anaemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder characterized by recurrent stereotyped episodic intense pain occurring predominantly in either the upper body or lower limbs in several members of a family. The pain is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations such as tachycardia, breathing difficulties and generalized pallor may be associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder characterised by recurrent stereotyped episodic intense pain occurring predominantly in either the upper body or lower limbs in several members of a family. The pain is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations such as tachycardia, breathing difficulties and generalised pallor may be associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycaemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Fatigue refers to a lack of energy, and it may be either acute or chronic. Fatigue may result from exertion, stress, and a wide variety of underlying medical conditions, including infections, malignancies, autoimmune disorders, anxiety, and depression. It may also be an adverse effect of medical treatments such as chemotherapy. Depending on the underlying cause, fatigue may or may not be relieved by rest. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Rare infectious encephalitis characterised by an acute onset of neurological signs and symptoms (altered consciousness, seizures, headaches, meningeal signs, behavioural changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms such as fever, nausea, vomiting, fatigue prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (pneumonia, bronchiolitis, pharyngitis). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare primary genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space have been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare primary genetic renal tumour usually characterised by a unilateral, unicentric, morphologically diverse tumour that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, haematuria, anaemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space have been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare endocrine disease characterised by early onset of polycythaemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic hyperlipidaemia characterised by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhoea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic systemic or rheumatologic disease with characteristics of neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure and death. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea and diabetes mellitus. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare tumour of pancreas caused by mutations in the GCGR gene characterised by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumours and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhoea and diabetes mellitus. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterised by a systemic inflammatory response due to massive activation of leucocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnoea to acute respiratory distress syndrome. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare hepatic disease characterised by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognised biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of tooth, primarily at the cervical region. Usually wedge-shaped lesions with sharp-line angles, but sometimes circular invaginations on occlusal surfaces. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of the tooth structure, primarily at the cervical region. These are usually wedge-shaped lesions with sharp-line angles, but sometimes are circular invaginations on occlusal surfaces. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Noncarious lesion, where tooth is fatigued, flexed, and deformed by biomechanical loading of the tooth structure, primarily at the cervical region. These are usually wedge-shaped lesions with sharp-line angles, but sometimes are circular invaginations on occlusal surfaces. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Mental and physical fatigue from prolonged or difficult treatment. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare condition characterised by generalised, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminum-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminum hydroxide and may occur up to 10 years following vaccination. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare systemic inflammatory disease associated with long-lasting biopersistance of post-vaccinal aluminic granulomas. More than 600 cases have been reported to date, most of them in France. This is probably due to large-scale vaccination with aluminium-containing vaccines in France during the 1990s. The disease generally manifests with myalgias of variable intensity, and is usually associated with weakness and chronic fatigue. Belongs to the group of Autoimmune/inflammatory Syndromes Induced by Adjuvants (ASIA): it is triggered, probably in genetically predisposed patients, by injection of vaccines containing aluminium hydroxide and may occur up to 10 years following vaccination. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome. The clinical course is divided into three phases. The first phase (lasting a few weeks) has characteristics of rapidly progressive muscle weakness. It is symmetrical and may cause acute neuromuscular paralysis. Sensory disturbances, intense pains, and cramps may also occur. During the second phase (variable duration), symptoms become stable but other manifestations (cardiac arrhythmias, hyper/hypotension and gastric dysmotility) may occur. During the third (recovery) phase, lasting a few months or longer, symptoms slowly regress. Many patients have residual findings (weakness, sensory disturbances, fatigue or pain) for many months or even years. In the majority of cases, an infectious disease precedes the onset of limb weakness, with Campylobacter jejuni infection being the most frequent initiating event. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A non-syndromic, microcytic/hypochromic sideroblastic anaemia, present from early infancy and characterised by severe microcytic anaemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterised individuals have been reported. Clinical features are those of anaemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycaemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. To date, fewer than 30 unrelated genetically characterized individuals have been reported. Clinical features are those of anemia and iron overload and include pallor, fatigue, weakness, breathlessness, splenomegaly, hyperglycemia, glucose intolerance and skin hyperpigmentation. Patients need blood transfusions to survive and do not respond to treatment with pyridoxine. Caused by a homozygous or compound heterozygous mutation in the SLC25A38 gene located on chromosome 3p22.1. The SLC25A38 gene mutation is transmitted as an autosomal recessive trait. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An extremely rare autosomal recessive glycine metabolism disorder characterised clinically in the single reported case to date by muscle fatigue and a fish-like odour. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A form of paroxysmal dyskinesia with characteristics of painless attacks of dystonia of the extremities triggered by prolonged physical activities. The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. The attacks last between 5 minutes and 2 hours and are typically restricted to the exercised limbs. The dystonic movements are usually bilateral and are aggravated by cold, psychological stress, fatigue and lack of sleep. The pathophysiology is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 gene (1p34.2). Sporadic and familial cases with autosomal dominant mode of inheritance have been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterised by fasting hypoglycaemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonaemia but without hyperalaninaemia or hyperlactacidaemia. After meals, major hyperglycaemia associated with lactate and alanine increase and hyperlipidaemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A form of limb-girdle muscular dystrophy with characteristics of childhood-onset progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly ocular features (e.g. myopia, cataract) and seizures. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the TRAPPC11 gene on chromosome 4q35. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anaemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of renal cell carcinoma arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with haematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes may predispose to the development of papillary renal cell carcinoma. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of renal cell carcinoma arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes may predispose to the development of papillary renal cell carcinoma. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts harbouring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare non-syndromic congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare non-syndromic congenital heart malformation characterised by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnoea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of acute myeloid leukaemia with recurrent cytogenetic abnormalities characterised by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anaemia, thrombocytopenia and nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harbouring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include haematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anaemia, fatigue and fever. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An extremely rare malignant epithelial tumor of the small intestine (most often localized in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localization of the tumor. Gastrointestinal bleeding and perforation may occur in advanced cases. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An extremely rare malignant epithelial tumour of the small intestine (most often localised in the duodenum). Presenting symptoms are often nonspecific, such as weight loss, epigastric pain, anorexia, weakness, fatigue, vomiting and abdominal distension, and vary depending on localisation of the tumour. Gastrointestinal bleeding and perforation may occur in advanced cases. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and rarely other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare malignant hematologic disease characterized by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukemia. Patients present with signs and symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare malignant haematologic disease characterised by clonal proliferation of myeloid blasts, primarily involving the bone marrow, in association with congenital disorders (e.g. Fanconi anemia, dyskeratosis congenita, Bloom syndrome, Down syndrome, congenital neutropenia, neurofibromatosis) and genetic defects predisposing to acute myeloid leukaemia. Patients present with signs and symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Depending on the underlying genetic defect, there may be additional cancer risks and other health problems present. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms such as fever, nausea, vomiting, fatigue prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (pneumonia, bronchiolitis, pharyngitis). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukaemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukaemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare juvenile idiopathic inflammatory myopathy characterised by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localised scleroderma, diabetes). Cardiac involvement has been reported in some patients. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (for example systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare epithelial tumor of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or hematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare epithelial tumour of the stomach that lacks any features of differentiation beyond an epithelial phenotype. The presenting symptoms are usually vague and nonspecific, such as weight loss, anorexia, fatigue, epigastric pain and discomfort, heartburn and nausea, vomiting or haematemesis. Patients may also be asymptomatic. Ascites, jaundice, intestinal obstruction and peripheral lymphadenopathy indicate advanced stages and metastatic spread. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare lymphoid haemopathy defined as single or multiple tumours in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anaemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukaemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare cardiac malformation characterised by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnoea or respiratory distress. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An acute encephalopathy with inflammation-mediated status epilepticus characterised by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioural changes or hallucinations. Brain MRI abnormalities and abnormal findings in cerebrospinal fluid, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 An acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in cerebrospinal fluid, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare urogenital disease characterised by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhoea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic multisystemic chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic multisystemic chronic autoimmune disease characterised by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, haematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, amongst others. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired pituitary hormone deficiency with characteristics of secondary adrenal insufficiency with normal secretion of anterior pituitary hormones, except for adrenocorticotropic hormone (ACTH). Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycaemia and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A type of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A haematological neoplasm characterised by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anaemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anaemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and rarely other tissues. Bone marrow typically shows small hypo-lobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, and variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder characterized by recurrent stereotyped episodic intense pain occurring predominantly in either the upper body or lower limbs in several members of a family. The pain is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations such as tachycardia, breathing difficulties and generalized pallor may be associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder characterised by recurrent stereotyped episodic intense pain occurring predominantly in either the upper body or lower limbs in several members of a family. The pain is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations such as tachycardia, breathing difficulties and generalised pallor may be associated. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare acquired pituitary hormone deficiency a type of primary hypophysitis with characteristics of inflammation of the entire pituitary gland. Common clinical presentation is diabetes insipidus with polyuria and polydipsia and partial or panhypopituitarism. Other symptoms may include headaches, nausea/vomiting, visual disturbances and fatigue. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycaemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Fatigue refers to a lack of energy, and it may be either acute or chronic. Fatigue may result from exertion, stress, and a wide variety of underlying medical conditions, including infections, malignancies, autoimmune disorders, anxiety, and depression. It may also be an adverse effect of medical treatments such as chemotherapy. Depending on the underlying cause, fatigue may or may not be relieved by rest. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 Rare infectious encephalitis characterised by an acute onset of neurological signs and symptoms (altered consciousness, seizures, headaches, meningeal signs, behavioural changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms such as fever, nausea, vomiting, fatigue prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (pneumonia, bronchiolitis, pharyngitis). SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A very rare benign inborn error of glycogen metabolism with characteristic of exercise intolerance. The disease starts generally in adolescence or adulthood. Patients may present with exercise intolerance with myalgia, cramps, fatigue, and sometimes myoglobinuria. In some cases, patients may present with progressive muscle weakness. Phosphorylase kinase (PhK) is an enzyme which plays a key role in the regulation of glycogenolysis as it is required for glycogen phosphorylase activation. It consists of four copies of each four subunits (alpha, beta, gamma and calmodulin) encoded by different genes on different chromosomes and differentially expressed in various tissues. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic gastroenterological disease characterised by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anaemia, fatigue, oedema, and diarrhoea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare primary genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space have been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare primary genetic renal tumour usually characterised by a unilateral, unicentric, morphologically diverse tumour that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, haematuria, anaemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space have been reported. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare endocrine disease characterised by early onset of polycythaemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare endocrine disease characterized by early onset of polycythemia, and later occurring multiple paraganglioma. Clinical presentation includes hypertension, headaches, fatigue, nausea, anxiety and high concentration of red blood cells, leading to increased risk of stroke and pulmonary thromboembolism. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic hyperlipidaemia characterised by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhoea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons. Clinical manifestations include recurrent episodes of severe acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, constipation, hepatosplenomegaly, eruptive xanthomas and failure to thrive. Children may often be asymptomatic. The condition is not associated with severe atherosclerosis. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic systemic or rheumatologic disease with characteristics of neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure and death. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea and diabetes mellitus. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare tumour of pancreas caused by mutations in the GCGR gene characterised by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumours and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhoea and diabetes mellitus. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterized by a systemic inflammatory response due to massive activation of leukocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnea to acute respiratory distress syndrome. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare systemic condition affecting patients undergoing chimeric antigen receptor (CAR) T-cell therapy and characterised by a systemic inflammatory response due to massive activation of leucocytes with subsequent cytokine release. It can present with a variety of signs and symptoms ranging from mild, flu-like symptoms (such as fever, fatigue, headache, rash, arthralgia, and myalgia) to severe life-threatening manifestations including vascular leakage, disseminated intravascular coagulation, shock and multiple organ failure. Respiratory manifestations are common and range from cough and tachypnoea to acute respiratory distress syndrome. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare hepatic disease characterised by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognised biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common. SNOMED Terms for : fatigue 214 109750005 719 109750005 720 109750005 1269 704369007 1767 715402001 1768 715402001 2084 718175009 2085 718175009 2182 716723000 2272 717050005 2273 717050005 2738 719449007 2739 719449007 3645 724072002 3738 725026008 3739 725026008 4027 732929002 4272 733598001 4273 733598001 4285 733608000 4286 733608000 4552 763309005 4553 763309005 4674 763747002 4675 763747002 4702 763796007 4703 763796007 4926 764694005 4927 764694005 4939 764735002 4940 764735002 4960 764855007 4961 764855007 4976 764940002 4977 764940002 4996 764993001 5114 765748009 5115 765748009 5132 766045006 5133 766045006 5134 766046007 5135 766046007 5154 766252004 5155 766252004 5187 766757006 5188 766757006 5237 766935007 5238 766935007 5305 767499000 5327 768556005 5328 768556005 5431 770433003 5432 770433003 5555 770758009 5556 770758009 5581 770903003 5582 770903003 5796 773333003 5797 773333003 5833 773489008 5834 773489008 5941 773728004 5966 773989002 5967 773989002 6060 778022009 6061 778022009 6108 780817000 6109 780817000 6117 780844005 6118 780844005 6205 782756008 6206 782756008 6322 783016009 6474 783717008 6475 783717008 6541 84229001 6887 764993001 7196 819953000 9070 1187194006 9071 1187194006 9105 1187464007 9106 1187464007 9187 1197217007 9188 1197217007 9225 1197489003 9226 1197489003 9241 1197594000 9471 1217211002 9472 1217211002 9626 1228875006 9627 1228875006 9722 1230290005 9723 1230290005 9724 1230291009 9725 1230291009 Name: conceptId, dtype: int64 A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Intermittent incontinence of urine while sleeping, regardless of whether intermittent daytime urinary incontinence is also present or not. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Activities done in preparation for sleep that promote sleep. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 An absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. In symptomatic cases, clinical features and signs may include decreased activity and increased sleep, feeding difficulty, constipation and prolonged jaundice. Slow linear growth and developmental delay may also occur. Some familial cases have been reported suggesting genetic factors but to date none have been identified in humans. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare movement disorder characterised by involuntary spasmodic contractions of the inspiratory muscles synchronised with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A movement disorder with manifestation of episodes of involuntary tremor of the chin and lower lip. The disorder has been described in less than 25 families from Europe and the USA, with a slight male preponderance. Onset usually occurs in childhood and may be precipitated by stress and emotion. Episodes may occur during sleep. There are no associated neurological abnormalities. Spontaneous improvement with age is possible. Inheritance is autosomal dominant. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 This syndrome is characterized by sleep apnea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 This syndrome is characterised by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A form of paroxysmal dyskinesia with characteristics of painless attacks of dystonia of the extremities triggered by prolonged physical activities. The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. The attacks last between 5 minutes and 2 hours and are typically restricted to the exercised limbs. The dystonic movements are usually bilateral and are aggravated by cold, psychological stress, fatigue and lack of sleep. The pathophysiology is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 gene (1p34.2). Sporadic and familial cases with autosomal dominant mode of inheritance have been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnoea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare neurologic disorder with characteristics of a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (such as dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare disease with characteristics of holoprosencephaly and ectrodactyly. Holoprosencephaly occurs during early fetal development with failure of the brain to divide into the left and right hemisphere. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have cyclopia and proboscis located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. Other manifestations include malfunctioning pituitary, seizures, feeding difficulties, developmental delay and problems regulating body temperature and sleep pattern. Some affected individuals have distinctive facial features, including hypertelorism, hypotelorism, cleft lip, cleft palate. Can be caused by mutations in the FGFR1 gene. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare infantile epilepsy syndrome characterised by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralising signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare partial autosomal trisomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare partial autosomal trisomy characterised by global developmental delay, intellectual disability, autistic behaviour, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare brain inflammatory disease characterised by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhoea, gastroparesis, and constipation. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare brain inflammatory disease characterised by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhoea, gastroparesis, and constipation. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomalies (for example autistic behavior, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioural problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic neurological disorder with characteristics of hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare axonal hereditary motor and sensory neuropathy characterised by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paraesthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic cerebral small vessel disease with characteristics of adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic cerebral small vessel disease with characteristics of adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leucoencephalopathy. Patients may present with migraine, transient ischaemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leucoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behaviour during sleep have also been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Generic term applied to treatments for: obstructive sleep apnea, central sleep apnea, snoring and upper airway resistance. Uses a stream of compressed air to support the airway during sleep. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Generic term applied to treatments for: obstructive sleep apnoea, central sleep apnoea, snoring and upper airway resistance. Uses a stream of compressed air to support the airway during sleep. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Living in an environment that is not meant for permanent human habitation such as cars, parks, sidewalks, abandoned buildings, or on the street. However, the environment is a designated safe sleeping environment. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A psychologist specializing in the study of sleep and sleep disorders or the application of acquired knowledge about sleep and sleep disorders to the assessment, diagnosis, and treatment of sleep problems. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Intermittent incontinence of urine while sleeping, regardless of whether intermittent daytime urinary incontinence is also present or not. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Activities done in preparation for sleep that promote sleep. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 An absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. In symptomatic cases, clinical features and signs may include decreased activity and increased sleep, feeding difficulty, constipation and prolonged jaundice. Slow linear growth and developmental delay may also occur. Some familial cases have been reported suggesting genetic factors but to date none have been identified in humans. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A very rare circadian rhythm sleep disorder with main features of very early sleep onset and offset possibly resulting in emotional and physical disruptions. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare movement disorder characterised by involuntary spasmodic contractions of the inspiratory muscles synchronised with larynx closure lasting for more than 48 hours.In rare pathological cases, hiccups may last for more than two days. Recurrent episodes over long periods are also called chronic hiccup. Clinical repercussions of these episodes may include dehydration, weight loss and malnutrition due to difficulty eating, sleep disorders, depression and exhaustion. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A movement disorder with manifestation of episodes of involuntary tremor of the chin and lower lip. The disorder has been described in less than 25 families from Europe and the USA, with a slight male preponderance. Onset usually occurs in childhood and may be precipitated by stress and emotion. Episodes may occur during sleep. There are no associated neurological abnormalities. Spontaneous improvement with age is possible. Inheritance is autosomal dominant. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A permanent thyroid hormone deficiency that is present from birth. The majority of cases are asymptomatic but some may have features of hypothyroidism including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxoedematous facies, large fontanelles (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. In 90% of cases the peripheral resistance to thyroid hormones is caused by dominantly inherited mutations in genes encoding for thyroid hormone receptor beta. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 This syndrome is characterized by sleep apnea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 This syndrome is characterised by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A form of paroxysmal dyskinesia with characteristics of painless attacks of dystonia of the extremities triggered by prolonged physical activities. The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. The attacks last between 5 minutes and 2 hours and are typically restricted to the exercised limbs. The dystonic movements are usually bilateral and are aggravated by cold, psychological stress, fatigue and lack of sleep. The pathophysiology is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 gene (1p34.2). Sporadic and familial cases with autosomal dominant mode of inheritance have been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A type of central congenital hypothyroidism with characteristics of low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to thyrotropin-releasing hormone (TRH). It may or may not be observed from birth. The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Slow linear growth and developmental delay are usually apparent by 4-6 months of age. Caused by mutations in the TRH receptor gene (TRHR; 8q23). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17. The disorder has characteristics of hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies and sleep disturbance are also frequently associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnoea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Syndrome with characteristics of multiple congenital abnormalities, intellectual disability and delayed development of skills such as sitting and walking. Characteristic facial features include a round face, thick hair, synophrys, wide-set, bulging eyes with long eyelashes, a short nose and down-turned corners of the mouth. Patent ductus arteriosus is present in most cases. Obstructive sleep apnea is a common feature. Cases are usually shorter than more than 97 percent of their peers and are overweight for their height. Other features include microcephaly, hearing loss, cataract, single horseshoe-shaped kidney and cryptorchidism. Caused by mutations in the AFF4 gene thought to result in excessive AFF4 protein, which interferes with normal pauses in transcription. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare neurologic disorder with characteristics of a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (such as dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare disease with characteristics of holoprosencephaly and ectrodactyly. Holoprosencephaly occurs during early fetal development with failure of the brain to divide into the left and right hemisphere. In the most severe forms of holoprosencephaly, the brain does not divide at all. These affected individuals have cyclopia and proboscis located above the eye. Most babies with severe holoprosencephaly die before birth or soon after. Other manifestations include malfunctioning pituitary, seizures, feeding difficulties, developmental delay and problems regulating body temperature and sleep pattern. Some affected individuals have distinctive facial features, including hypertelorism, hypotelorism, cleft lip, cleft palate. Can be caused by mutations in the FGFR1 gene. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare infantile epilepsy syndrome characterised by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralising signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare partial autosomal trisomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare partial autosomal trisomy characterised by global developmental delay, intellectual disability, autistic behaviour, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare brain inflammatory disease characterized by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhea, gastroparesis, and constipation. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare brain inflammatory disease characterised by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhoea, gastroparesis, and constipation. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare brain inflammatory disease characterised by subacute or insidious onset of variable neurological features including cognitive dysfunction (memory impairment, hallucinations, confusion, amnesia), central hyperexcitability (agitation, tremor, myoclonus, exaggerated startle), brain stem involvement (dysphagia, dysarthria, ataxia) and disturbed sleep. Symptoms of dysautonomia include diarrhoea, gastroparesis, and constipation. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomalies (for example autistic behavior, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterised by severe intellectual disability, lack of speech with normal or mildly delayed motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behaviour and stereotypic movements are commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare hyperkinetic movement disorder with characteristics of mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs such as gait ataxia and adiadochokinesia may be associated. There have been no further descriptions in the literature since 1976. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioral problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioural problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic neurological disorder with characteristics of hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare axonal hereditary motor and sensory neuropathy characterised by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paraesthesia in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic cerebral small vessel disease with characteristics of adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. Patients may present with migraine, transient ischemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leukoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic cerebral small vessel disease with characteristics of adult-onset primary microangiopathy with severe atherosclerosis of arterioles and secondary leucoencephalopathy. Patients may present with migraine, transient ischaemic attacks, stroke with central facial palsy, cognitive dysfunction with impaired concentration, dementia, depression, movement disorder, vertigo, dysphagia, dysarthria, impaired REM sleep, and therapy-resistant hypertension, among others. Brain MRI typically shows a leucoencephalopathy that is disproportionately severe and extensive compared to the clinical disease. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints and pes planovalgus. Seizures and episodes of aggressive behaviour during sleep have also been reported. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Generic term applied to treatments for: obstructive sleep apnea, central sleep apnea, snoring and upper airway resistance. Uses a stream of compressed air to support the airway during sleep. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Generic term applied to treatments for: obstructive sleep apnoea, central sleep apnoea, snoring and upper airway resistance. Uses a stream of compressed air to support the airway during sleep. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 Living in an environment that is not meant for permanent human habitation such as cars, parks, sidewalks, abandoned buildings, or on the street. However, the environment is a designated safe sleeping environment. SNOMED Terms for : sleep 903 8009008 1529 710923000 1886 715734006 1927 715829003 2070 716338001 2203 716771000 2204 716771000 2399 718103001 2428 718193005 2429 718193005 2430 718193005 2431 718193005 2789 719657001 2790 719657001 2889 719976001 2890 719976001 3645 724072002 3825 725462002 4091 734016004 4098 734022008 4831 764455002 4832 764455002 5099 765751002 5131 766032007 5480 770622009 5481 770622009 5569 770793002 5570 770793002 5759 773230003 5802 773395008 5803 773395008 5804 773395008 5805 773395008 5857 773552008 5858 773552008 5931 773699009 5932 773699009 5933 773699009 5934 773699009 5980 774068004 5981 774068004 6181 782723007 6182 782723007 6294 782935003 6323 783055005 6324 783055005 6481 783702009 6482 783702009 6742 787175002 6743 787175002 8742 1172626003 9073 1187210007 9133 1187618009 9134 1187618009 9212 1197429000 9213 1197429000 9236 1197591008 9237 1197591008 9288 229306004 9346 229306004 10343 611181000124104 10352 611701000124107 Name: conceptId, dtype: int64 A psychologist specializing in the study of sleep and sleep disorders or the application of acquired knowledge about sleep and sleep disorders to the assessment, diagnosis, and treatment of sleep problems. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked). SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which has characteristic of a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Characterized by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastroesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastroesophageal reflux, and cough triggered by noxious odors or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Characterised by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastrooesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastrooesophageal reflux, and cough triggered by noxious odours or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibres. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibers. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare vascular disease characterised by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischaemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Syncope followed by tonic or tonic-clonic movements due to cortical depression and not as a result of a cortical electrical seizure SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked). SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which has characteristic of a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Characterized by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastroesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastroesophageal reflux, and cough triggered by noxious odors or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Characterised by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastrooesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastrooesophageal reflux, and cough triggered by noxious odours or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumor characterized macroscopically by its small size and highly papillar pedunculated appearance. The tumor is characterized histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischemia or thromboembolic complications (such as syncope, transient ischemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign primary endocardial tumour characterised macroscopically by its small size and highly papillar pedunculated appearance. The tumour is characterised histologically as avascular and presents with a single layer of endothelium. It is usually asymptomatic, however, cardiac or neurological symptoms due to ischaemia or thromboembolic complications (such as syncope, transient ischaemia, myocardial infarction or stroke) may be observed. The cardiac valves especially the aortic valve are commonly affected. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Syndrome with characteristics of a variety of cardiac problems related to arrhythmia. The disease may be associated with problems with the sinoatrial node, which may lead to bradycardia. In a small number of cases prolonged QT interval may occur. Some affected individuals have impaired conduction leading to heart block. Other manifestations include atrial fibrillation, ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia. Arrhythmia can lead to syncope, cardiac arrest and sudden death. Caused by mutations in the ANK2 gene leading to production of an altered ankyrin-B protein that cannot target ion channels to their correct locations in cardiac muscle cells. Inherited in an autosomal dominant pattern. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic disease with characteristics of congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. There is evidence this disease is caused by homozygous mutation in the CACNA1D gene on chromosome 3p21. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic malformation syndrome with characteristics of microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibres. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibers. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare vascular disease characterised by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischaemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare vascular disease characterized by idiopathic detachment of the layers of the walls of coronary arteries, creating a false lumen which limits the main coronary flow, leading to myocardial ischemia. Clinical manifestations include acute coronary syndromes, especially ST-segment elevation myocardial infarction (STEMI), syncope, cardiogenic shock, or sudden cardiac death. The condition typically affects young women. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : syncope 416 438113009 972 418818005 1941 715865008 2138 716655008 2401 718104007 3156 717825008 3157 717825008 3845 725909004 3846 725909004 3847 725909004 3848 725909004 4761 764457005 5559 770784003 5632 771179007 8919 1179295004 8920 1179295004 9201 1197364005 9202 1197364005 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Dizziness experienced on lying down. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare slow growing neuronal tumour seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterised by hypotonic hyponatraemia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatraemic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic congenital secondary polycythaemia disorder characterised by increased haemoglobin, haematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnoea and/or plethora. Patients present an increased risk of haemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare hereditary hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibres characterised by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fibre density. Large fibre functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fiber density. Large fiber functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign highly vascularized tumor of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign highly vascularised tumour of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of haemangioblastoma arising outside of the central nervous system have been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 Dizziness experienced on lying down. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare slow growing neuronal tumor seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare slow growing neuronal tumour seen more frequently in females than males, occurring most commonly in the cerebellum but occasionally in the supratentorial compartment or the fourth ventricle and presenting in the 4th to 6th decade of life with symptoms of dizziness, headache and gait instability. It often has a high rate of local recurrence. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterized by hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatremic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A very rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) characterised by hypotonic hyponatraemia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Symptoms are the classical symptoms of hyponatraemic encephalopathy such as nausea, vomiting, dizziness and gait disturbances. Caused by a gain of function mutation in the type 2 AVP receptor (AVPR2) gene (location Xq28). This mutation leads to constant activation of the AVPR2 receptor on renal collecting duct cells, which causes an increase in free water reabsorption and an increase in urine concentration. An X-linked disorder affecting mainly males with females often being asymptomatic carriers. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A characteristic selective serotonin reuptake inhibitor (SSRI) discontinuation syndrome is usually mild, commences within 1 week of stopping treatment, resolves spontaneously within 3 weeks, and consists of diverse physical and psychological symptoms, the commonest being dizziness, nausea, lethargy and headache. SSRI reinstatement leads to resolution within 48 hours. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic congenital secondary polycythaemia disorder characterised by increased haemoglobin, haematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnoea and/or plethora. Patients present an increased risk of haemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare hereditary haematologic disease characterised by an increase in haemoglobin, haematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnoea. In some cases, thrombophlebitis and arthralgia have also been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare hereditary hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibres characterised by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fibre density. Large fibre functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic peripheral neuropathy disorder due to gain-of-function mutations in voltage-gated sodium channels present in the small peripheral nerve fibers characterized by neuropathic pain of varying intensity (often beginning in the distal extremities and with a burning quality) associated with autonomic dysfunction (for example orthostatic dizziness, palpitations, dry eyes and mouth), abnormal quantitative sensory testing and reduction in intraepidermal nerve fiber density. Large fiber functions (such as normal strength, tendon reflexes and vibration sense) and nerve conduction studies are typically normal. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign highly vascularized tumor of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare benign highly vascularised tumour of the central nervous system most often located in the cerebellum or spinal cord. The disease presents in adulthood and manifests with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and is often associated with von Hippel-Lindau disease. Exceptional cases of haemangioblastoma arising outside of the central nervous system have been reported. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnoea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : zziness 1430 103286000 2105 716592003 2106 716592003 3519 723440000 3520 723440000 3863 725121001 5419 770407006 5420 770407006 6500 783766005 6501 783766005 6526 782824007 6527 782824007 8422 1156474009 8423 1156474009 9471 1217211002 9472 1217211002 Name: conceptId, dtype: int64 A rare genetic primary orthostatic disorder with characteristics of dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position in the absence of hypotension. Syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system percutaneous procedure that observes for evidence of hypersensitivity. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Syndrome that is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Syndrome that is characterised by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A substance that modifies the immune response or the functioning of the immune system. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system procedure that observes for evidence of hypersensitivity SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 An immune system percutaneous procedure that observes for evidence of hypersensitivity. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Syndrome that is characterized by silvery to leaden hair, bronze skin color in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Syndrome that is characterised by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. The syndrome was first described in 1979 in three consanguineous families. It is either congenital or develops during childhood (seizures, severe hypotonia and intellectual deficit). There is no impairment of the immune system and a wide spectrum of ophthalmologic abnormalities has been described. Molecular data has shed light on the complex relationship that exists between this syndrome and Griscelli syndrome. Mutations in the myosin Va gene (MYOVA) result in the so-called Griscelli syndrome type 1. MYOVA encodes myosin Va, an actin-based motor protein important for the intracellular transport of organelles in melanocyte and neuronal cells. It is very likely that Griscelli syndrome type 1 corresponds to with this syndrome. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A substance that modifies the immune response or the functioning of the immune system. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. SNOMED Terms for : immune system 219 239332003 220 239332003 246 252512005 1461 239332003 2289 717191005 2290 717191005 2292 717191005 2293 717191005 3647 724091002 3648 724091002 4431 734544007 5749 772126000 7316 840301002 Name: conceptId, dtype: int64 Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Known to have allergic reactions to particular substance(s) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 An abnormal inflammatory skin condition resulting from exposure to ultraviolet light, most commonly sunlight. May result from phototoxic or photoallergic reactions or both. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Lack of ability to exercise restraint or control over feelings, emotions or reactions. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Gingival disease with an aetiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Gingival disease with an etiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterised by extensive necrosis and detachment of the epidermis. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterized by extensive necrosis and detachment of the epidermis. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Type 1 lepra reactions or reversal reactions are associated with the development of M. leprae antigenic determinants. They are delayed hypersensitivity reactions and may occur in both paucibacillary leprosy and multibacillary leprosy. (WHO) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Type 2 lepra reactions (erythema nodosum leprosum), are associated with circulation and tissue deposition of immune complexes. They are an antibody response or immune complex response to M. leprae antigenic determinants which occur only in multibacillary leprosy. (WHO) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Known to have allergic reactions to particular substance(s) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA ‘Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting’). SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 An abnormal inflammatory skin condition resulting from exposure to ultraviolet light, most commonly sunlight. May result from phototoxic or photoallergic reactions or both. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Lack of ability to exercise restraint or control over feelings, emotions or reactions. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Gingival disease with an aetiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Gingival disease with an etiology other than dental plaque, such as bacterial, viral, fungal or genetic origin, due to systemic conditions, trauma, foreign body reactions, or other causes. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterised by extensive necrosis and detachment of the epidermis. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Severe mucocutaneous reactions; skin detachment of 10 to 30 percent of body surface area most commonly triggered by medications, characterized by extensive necrosis and detachment of the epidermis. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 This syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Type 1 lepra reactions or reversal reactions are associated with the development of M. leprae antigenic determinants. They are delayed hypersensitivity reactions and may occur in both paucibacillary leprosy and multibacillary leprosy. (WHO) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Type 2 lepra reactions (erythema nodosum leprosum), are associated with circulation and tissue deposition of immune complexes. They are an antibody response or immune complex response to M. leprae antigenic determinants which occur only in multibacillary leprosy. (WHO) SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 Potential for exposure to allergens and incurring inappropriate or dangerous immune system reactions in those individuals with an allergic disposition. SNOMED Terms for : reactions 203 106190000 321 62014003 322 62014003 1015 22649008 1281 705000008 1343 707606004 1349 707606004 1440 709073001 1442 709073001 1521 124911000119100 1532 124911000119100 2671 719211006 3856 726019003 5266 240407009 5285 240410002 7316 840301002 8029 62014003 Name: conceptId, dtype: int64 All noxious and unintended responses to a medicinal product related to any dose should be considered adverse drug reactions (from US FDA Guideline for Industry, Clinical Safety Data Management: Definitions and Standards for Expedited Reporting). SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A rare malignant tumor of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A rare malignant tumour of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumour develops in the peritoneum and spreads to the abdomen, pelvis and ovaries. Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A rare malignant tumor of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumor develops in the peritoneum and spreads to the abdomen, pelvis and ovaries.Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A rare malignant tumour of the peritoneal cavity of extra-ovarian origin. Clinically and histologically similar to advanced-stage serous ovarian carcinoma. It is almost exclusively found in women. Can occur many years after oophorectomy performed for benign diseases or prophylactic oophorectomy. The tumour develops in the peritoneum and spreads to the abdomen, pelvis and ovaries. Primary peritoneal carcinoma has an epithelial origin and probably derives from embryonal epithelium. The fallopian tubes are suspected as the primary site. SNOMED Terms for : phyla 2127 716649003 2128 716649003 2138 716655008 Name: conceptId, dtype: int64 A severe and rare form of systemic mastocytosis with manifestation of considerable infiltration of mast cells in different tissues. It represents less than 10% of cases of systemic mastocytosis. This disease doesn't usually develop in children. Cutaneous involvement is normally absent. Patients present with severe symptoms related to mast cell invasion and the intense release of mediators including syncope, recurrent flushing, organomegaly and organ dysfunction. The most serious complication is potentially fatal anaphylactic shock.There is evidence of an activating mutation of KIT, usually D816V, in the mast cells of the vast majority of patients. The prognosis is poor with a median survival of 2 to 4 years. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 Congenital abnormal vertical shortness of eyelids SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare autosomal dominant heart-hand syndrome with characteristics of bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. It has been described in four family members from three generations, with no new cases having been reported since 1981. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare non-syndromic congenital heart malformation with characteristics of the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations and chest pain and exercise intolerance. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse). SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalized, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple naevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnoea. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 Congenital abnormal vertical shortness of eyelids SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare developmental disorder described in 4 siblings so far. Main characteristics include delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, shortness of lower limbs, bowed tibias and foot deformities. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Other symptoms are often present, including developmental and skeletal anomalies (stippling of the long bones, shortness of the distal phalanges of the fingers, osteoporosis) and pseudoxanthoma elasticum-like syndrome. This disease is an autosomal recessive disorder caused by mutations in the genes encoding either gamma-glutamyl carboxylase (GGCX; 2p12) or the vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1; 16p11.2). These two proteins are necessary for gamma-carboxylation, a postsynthetic modification that allows coagulation proteins to display their proper function. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A very rare autosomal dominant heart-hand syndrome with characteristics of bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. It has been described in four family members from three generations, with no new cases having been reported since 1981. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare non-syndromic congenital heart malformation with characteristics of the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations and chest pain and exercise intolerance. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (for example long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (such as aortic root dilatation, mitral valve prolapse). SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 In type 1 cyanosis from birth is the only symptom, it is well tolerated and is associated with mild complaints of headaches, fatigue and shortness of breath upon exertion. Caused by mutations of the CYB5R3 gene (22q13.31-qter) encoding the NADH-cytochrome b5 reductase (Cb5R) and Cb5R deficiency is limited to the erythrocytes. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalized, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple naevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnoea. SNOMED Terms for : shortness of 550 94684003 1549 711039004 2001 716094008 2039 716198008 2862 719842006 2923 720429007 3702 724356003 4244 733454004 4972 764955006 5123 765761009 5305 767499000 6102 778067002 6103 778067002 6956 17144009 8752 1172633003 8787 1172633003 9580 1222678003 9581 1222678003 Name: conceptId, dtype: int64 A rare genetic respiratory disease with characteristics of a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.