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

179087019 Familial disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

3821000077113 maladie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3821000077113 maladie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial disease	Is a	Disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hyperreninemic hypoaldosteronism type 2 (disorder)	Is a	False	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease (disorder)	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial chylomicronemia syndrome	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial cerebral saccular aneurysm (disorder)	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hyperreninemic hypoaldosteronism type 1B (disorder)	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial congenital nasolacrimal duct obstruction	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial intestinal malrotation	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial juvenile hyperuricemic nephropathy (disorder)	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterised clinically by corneal opacities, haemolytic anaemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyses the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder.	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial multinodular goiter syndrome (disorder)	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hyperinsulinemic hypoglycaemia	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial vasopressin-related polyuria	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial chondromalacia of patella (disorder)	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial chondrocalcinosis	Is a	True	Familial disease	Inferred relationship	Existential restriction modifier (core metadata concept)

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This concept is not in any reference sets