111941005: Familial disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Familial disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

179087019 Familial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

635166017 Familial disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3493241000052118 familjär sjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial disease	Is a	Disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial hypodontia	Is a	True	Familial disease	Inferred relationship	Some
Familial Alzheimer's disease of early onset	Is a	True	Familial disease	Inferred relationship	Some
Familial amyloid nephropathy with urticaria AND deafness	Is a	True	Familial disease	Inferred relationship	Some
Familial febrile urticaria	Is a	True	Familial disease	Inferred relationship	Some
Familial duodenal ulcer associated with rapid gastric emptying	Is a	True	Familial disease	Inferred relationship	Some
juvenil diabetes mellitus med debut i vuxen ålder	Is a	False	Familial disease	Inferred relationship	Some
Familial cardiomyopathy	Is a	True	Familial disease	Inferred relationship	Some
Familial adrenocortical hypoplasia	Is a	True	Familial disease	Inferred relationship	Some
Familial C3B inhibitor deficiency syndrome	Is a	True	Familial disease	Inferred relationship	Some
Familial amyloid polyneuropathy (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Hereditary motor neuron disease	Is a	False	Familial disease	Inferred relationship	Some
kerubism	Is a	False	Familial disease	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	False	Familial disease	Inferred relationship	Some
Familial neoplastic disease	Is a	True	Familial disease	Inferred relationship	Some
Familial disease with storage of sterols (other than cholesterol)	Is a	True	Familial disease	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	True	Familial disease	Inferred relationship	Some
Familial hemorrhagic diathesis	Is a	True	Familial disease	Inferred relationship	Some
Familial multiple polyposis syndrome	Is a	False	Familial disease	Inferred relationship	Some
Familial renal iminoglycinuria	Is a	True	Familial disease	Inferred relationship	Some
Normopepsinogenemic familial duodenal ulcer	Is a	True	Familial disease	Inferred relationship	Some
Familial hypokalemic alkalosis, Gullner type	Is a	True	Familial disease	Inferred relationship	Some
Familial hemiplegic migraine	Is a	True	Familial disease	Inferred relationship	Some
Familial restrictive cardiomyopathy	Is a	False	Familial disease	Inferred relationship	Some
Familial dysalbuminaemic hyperthyroxinaemia	Is a	True	Familial disease	Inferred relationship	Some
Familial hypergastrinemic duodenal ulcer	Is a	True	Familial disease	Inferred relationship	Some
Familial painful callosities (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial neonatal seizures	Is a	True	Familial disease	Inferred relationship	Some
Chronic familial neutropaenia	Is a	True	Familial disease	Inferred relationship	Some
Familial idiopathic pulmonary fibrosis (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial hirsutism (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial febrile convulsions	Is a	True	Familial disease	Inferred relationship	Some
Familial hyperalphalipoproteinemia	Is a	True	Familial disease	Inferred relationship	Some
Familial non-obstructive reflux-associated chronic pyelonephritis	Is a	True	Familial disease	Inferred relationship	Some
Congenital familial idiopathic priapism	Is a	True	Familial disease	Inferred relationship	Some
Familial aldosterone deficiency (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial abdominal aortic aneurysm (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial atrial fibrillation (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial idiopathic dilatation of right atrium (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial Alzheimer-like prion disease (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial developmental dysphasia (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Hyperinsulinism due to insulin receptor deficiency (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial hypertryptophanemia (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial haemolytic uraemic syndrome	Is a	True	Familial disease	Inferred relationship	Some
Familial hyperthyroidism (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial Ménière disease (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial acute necrotizing encephalopathy (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial hypercholanemia (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial isolated congenital asplenia (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial porphyria cutanea tarda	Is a	True	Familial disease	Inferred relationship	Some
Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial pericarditis	Is a	True	Familial disease	Inferred relationship	Some
Familial benign copper deficiency	Is a	True	Familial disease	Inferred relationship	Some
Familial nasal acilia (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial multiple nevi flammei (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial hyperprolactinemia	Is a	True	Familial disease	Inferred relationship	Some
Familial vesicoureteral reflux (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial isolated clinodactyly of finger (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial cortical myoclonus	Is a	True	Familial disease	Inferred relationship	Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	Is a	True	Familial disease	Inferred relationship	Some
Familial isolated trichomegaly	Is a	True	Familial disease	Inferred relationship	Some
Familial thoracic aortic aneurysm and aortic dissection	Is a	True	Familial disease	Inferred relationship	Some
Familial lambdoid synostosis	Is a	True	Familial disease	Inferred relationship	Some
Familial multiple lipomatosis (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial supernumerary nipple	Is a	True	Familial disease	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial chronic mucocutaneous candidiasis	Is a	True	Familial disease	Inferred relationship	Some
Familial osteodysplasia Anderson type (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Chronic Epstein-Barr virus infection syndrome	Is a	True	Familial disease	Inferred relationship	Some
Familial cervical artery dissection (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial immunoglobulin A nephropathy (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial congenital palsy of trochlear nerve (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial episodic pain syndrome	Is a	True	Familial disease	Inferred relationship	Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial recurrent peripheral facial palsy	Is a	True	Familial disease	Inferred relationship	Some
Familial thrombomodulin anomalies (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial temporal lobe epilepsy (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial congenital mirror movements	Is a	True	Familial disease	Inferred relationship	Some
Familial infantile myoclonic epilepsy	Is a	True	Familial disease	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Autosomal dominant epilepsy with auditory features (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial pulmonary capillary haemangiomatosis	Is a	True	Familial disease	Inferred relationship	Some
Familial absence of villi	Is a	True	Familial disease	Inferred relationship	Some
Heredofamilial systemic amyloidosis affecting skin (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial hematuria (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Isolated familial renal hypomagnesemia	Is a	True	Familial disease	Inferred relationship	Some
Familial non-neuropathic amyloidosis	Is a	True	Familial disease	Inferred relationship	Some
Familial hypospadias of penis (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial osteoarthropathy of the fingers	Is a	True	Familial disease	Inferred relationship	Some
Familial pigmented purpuric eruption	Is a	True	Familial disease	Inferred relationship	Some
Familial fibrous mediastinitis	Is a	True	Familial disease	Inferred relationship	Some
Familial gestational hyperthyroidism (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Haber's syndrome	Is a	True	Familial disease	Inferred relationship	Some
Familial osteochondritis dissecans (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial idiopathic hypercalciuria	Is a	True	Familial disease	Inferred relationship	Some
Idiopathic familial dystonia	Is a	True	Familial disease	Inferred relationship	Some
Familial paroxysmal rhabdomyolysis	Is a	True	Familial disease	Inferred relationship	Some
Familial obesity	Is a	True	Familial disease	Inferred relationship	Some
Glomerular disease due to familial disease	Due to	True	Familial disease	Inferred relationship	Some	2
Familial dyshormonogenetic goitre	Is a	True	Familial disease	Inferred relationship	Some
Familial patent arterial duct	Is a	True	Familial disease	Inferred relationship	Some

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This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
179087019	Familial disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
635166017	Familial disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3493241000052118	familjär sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)