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

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	Some

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	Some
Familial hyperreninemic hypoaldosteronism type 2 (disorder)	Is a	False	Familial disease	Inferred relationship	Some
A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.	Is a	True	Familial disease	Inferred relationship	Some
A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis.	Is a	True	Familial disease	Inferred relationship	Some
A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.	Is a	True	Familial disease	Inferred relationship	Some
Familial hyperreninemic hypoaldosteronism type 1B	Is a	True	Familial disease	Inferred relationship	Some
A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated.	Is a	True	Familial disease	Inferred relationship	Some
Familial intestinal malrotation	Is a	True	Familial disease	Inferred relationship	Some
Familial juvenile hyperuricemic nephropathy (disorder)	Is a	True	Familial disease	Inferred relationship	Some
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia 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 catalyzes 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	Some
A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors.	Is a	True	Familial disease	Inferred relationship	Some
Familial hyperinsulinemic hypoglycaemia	Is a	True	Familial disease	Inferred relationship	Some
Familial vasopressin-related polyuria	Is a	True	Familial disease	Inferred relationship	Some
Familial chondromalacia of patella (disorder)	Is a	True	Familial disease	Inferred relationship	Some
Familial chondrocalcinosis	Is a	True	Familial disease	Inferred relationship	Some
Familial proximal renal tubular acidosis	Is a	True	Familial disease	Inferred relationship	Some

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This concept is not in any reference sets