SNOMED CT code SNOMED code 111941005 name Familial disease status active date introduced 2002-01-31 fully specified name(s) Familial disease (disorder) synonyms Familial disease parents Disease 64572001 children Adult familial nephronophthisis with spastic quadriparesia syndrome 733650000 Autosomal dominant epilepsy with auditory features 784377008 Chronic Epstein-Barr virus infection syndrome 773738009 Chronic familial neutropenia 234576008 Congenital familial idiopathic priapism 236759008 Familial abdominal aortic aneurysm 715364001 Familial absence of villi 235730004 Familial acute necrotizing encephalopathy 723359002 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 782917007 Familial adrenocortical hypoplasia 37495007 Familial Alzheimer's disease of early onset 230265002 Familial Alzheimer-like prion disease 721219005 Familial amyloid nephropathy with urticaria AND deafness 15123008 Familial amyloid polyneuropathy 42295001 Familial arthrogryposis-cholestatic hepatorenal syndrome 62216007 Familial atrial fibrillation 715395008 Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease 1197418004 Familial benign copper deficiency 763531001 Familial C3B inhibitor deficiency syndrome 39674000 Familial cardiomyopathy 35728003 Familial cerebral saccular aneurysm 703226008 Familial cervical artery dissection 778061001 Familial chronic mucocutaneous candidiasis 235073000 Familial chylomicronemia syndrome 1197489003 Familial congenital mirror movements 784348007 Familial congenital nasolacrimal duct obstruction 1230016009 Familial congenital palsy of trochlear nerve 782679002 Familial cortical myoclonus 763770005 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome 782823001 Familial developmental dysphasia 721220004 Familial disease with storage of sterols (other than cholesterol) 58618005 Familial duodenal ulcer associated with rapid gastric emptying 16516008 Familial dysalbuminemic hyperthyroxinemia 237547004 Familial dyshormonogenetic goiter 237554005 Familial episodic pain syndrome 782756008 Familial febrile convulsions 230432008 Familial febrile urticaria 361200005 Familial fibrous mediastinitis 233737004 Familial gestational hyperthyroidism 703309000 Familial hematuria 399094007 Familial hemiplegic migraine 95656000 Familial hemolytic uremic syndrome 722721004 Familial hemophagocytic lymphohistiocytosis 398250003 Familial hemorrhagic diathesis 6935003 Familial hirsutism 432726005 Familial hyperalphalipoproteinemia 15771000119109 Familial hypercholanemia 723360007 Familial hypergastrinemic duodenal ulcer 6761005 Familial hyperinsulinemic hypoglycemia 1296480005 Familial hyperprolactinemia 763715007 Familial hyperreninemic hypoaldosteronism type 1B 1217069000 Familial hyperthyroidism 722942005 Familial hypertryptophanemia 721838005 Familial hypoaldosteronism 715343000 Familial hypodontia 109447008 Familial hypokalemic alkalosis, Gullner type 81987005 Familial idiopathic dilatation of right atrium 716773002 Familial idiopathic hypercalciuria 237886009 Familial idiopathic pulmonary fibrosis 426437004 Familial immunoglobulin A nephropathy 445404003 Familial infantile myoclonic epilepsy 784342008 Familial intestinal malrotation 253789002 Familial isolated clinodactyly of finger 763691008 Familial isolated congenital asplenia 726708009 Familial isolated trichomegaly 764523004 Familial juvenile gout 46785007 Familial lambdoid synostosis 766884000 removed: 2022-06-30 Familial lecithin cholesterol acyltransferase deficiency 1264565005 Familial multinodular goiter syndrome 1279836009 Familial multiple lipomatosis 766888002 Familial multiple nevi flammei 763714006 Familial Ménière disease 722949001 Familial nasal acilia 763532008 Familial neonatal seizures 279953009 Familial neoplastic disease 55352002 Familial non-neuropathic amyloidosis 237868006 Familial non-obstructive reflux-associated chronic pyelonephritis 707208009 Familial obesity 290439001 Familial osteoarthropathy of the fingers 55166000 Familial osteochondritis dissecans 715899006 Familial osteodysplasia Anderson type 773278003 Familial painful callosities 403793002 Familial paroxysmal rhabdomyolysis 240133009 Familial patent arterial duct 1179298002 Familial penile hypospadias 716744000 Familial pericarditis 74381009 Familial pigmented purpuric eruption 238783008 Familial porphyria cutanea tarda 59229005 Familial pulmonary capillary hemangiomatosis 234161007 Familial recurrent peripheral facial palsy 783257005 Familial renal iminoglycinuria 75652008 Familial supernumerary nipple 766927009 Familial temporal lobe epilepsy 783739005 Familial thoracic aortic aneurysm and aortic dissection 764965000 Familial thrombomodulin anomalies 783256001 Familial vesicoureteral reflux 763716008 Haber's syndrome 69971003 Heredofamilial systemic amyloidosis affecting skin 402459005 Idiopathic familial dystonia 230318005 Isolated familial renal hypomagnesemia 48655003 Normopepsinogenemic familial duodenal ulcer 76338009 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 764452004 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 111941005 ancestors sorted most to least specific
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