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	Reference Sets
179087019	Familial disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
635166017	Familial disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
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)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation 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

This concept is not in any reference sets

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