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255399007: Congenital (qualifier value)

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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Disorder of cholesterol synthesis Occurrence False Congenital Inferred relationship Some
Disorder of lipoprotein storage and metabolism Occurrence False Congenital Inferred relationship Some
Familial combined hyperlipidemia Occurrence False Congenital Inferred relationship Some
Disorder of glycosaminoglycan metabolism Occurrence True Congenital Inferred relationship Some 1
Mucopolysaccharidosis, MPS-IV-B Occurrence False Congenital Inferred relationship Some 2
Disorder of glycoprotein metabolism Occurrence True Congenital Inferred relationship Some 1
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Occurrence False Congenital Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Occurrence True Congenital Inferred relationship Some 2
Carbohydrate-deficient glycoprotein syndrome Occurrence True Congenital Inferred relationship Some 1
Disorder of sialic acid metabolism Occurrence True Congenital Inferred relationship Some 1
Sialuria Occurrence True Congenital Inferred relationship Some 1
Disorder of porphyrin and heme metabolism Occurrence False Congenital Inferred relationship Some
Homozygous erythropoietic protoporphyria Occurrence True Congenital Inferred relationship Some 1
Homozygous acute intermittent porphyria Occurrence False Congenital Inferred relationship Some
Homozygous hereditary coproporphyria Occurrence False Congenital Inferred relationship Some
Homozygous variegate porphyria Occurrence False Congenital Inferred relationship Some
Disorder of peroxisomal function Occurrence True Congenital Inferred relationship Some 1
General loss of peroxisomal function Occurrence True Congenital Inferred relationship Some 1
Neonatal adrenoleukodystrophy Occurrence False Congenital Inferred relationship Some
Infantile Refsum's disease Occurrence True Congenital Inferred relationship Some 1
Loss of multiple peroxisomal functions Occurrence True Congenital Inferred relationship Some 1
Zellweger's-like syndrome Occurrence True Congenital Inferred relationship Some 1
Pseudoinfantile Refsum's disease Occurrence True Congenital Inferred relationship Some 1
Loss of single peroxisomal function Occurrence True Congenital Inferred relationship Some 1
Peroxisomal thiolase deficiency Occurrence True Congenital Inferred relationship Some 1
Bifunctional peroxisomal enzyme deficiency Occurrence True Congenital Inferred relationship Some 1
Acyl-CoA oxidase deficiency Occurrence False Congenital Inferred relationship Some
Glutaryl-CoA oxidase deficiency Occurrence True Congenital Inferred relationship Some 1
Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia Occurrence True Congenital Inferred relationship Some 1
Isolated dihydroxyacetone phosphate acyltransferase deficiency Occurrence True Congenital Inferred relationship Some 1
Isolated alkyldihydroxyacetone phosphate synthase deficiency Occurrence True Congenital Inferred relationship Some 1
Primary hypercholesterolemia Occurrence False Congenital Inferred relationship Some
Polygenic hypercholesterolaemia Occurrence False Congenital Inferred relationship Some
Familial hypercholesterolaemia - homozygous Occurrence False Congenital Inferred relationship Some
Familial hypercholesterolaemia - heterozygous Occurrence False Congenital Inferred relationship Some
Hyperalphalipoproteinemia Occurrence False Congenital Inferred relationship Some
Familial defective apolipoprotein B-100 (disorder) Occurrence False Congenital Inferred relationship Some
Secondary hypercholesterolemia Occurrence False Congenital Inferred relationship Some
Primary hypertriglyceridaemia Occurrence False Congenital Inferred relationship Some
Fredrickson type IV hyperlipoproteinaemia Occurrence False Congenital Inferred relationship Some
hyperlipoprotéinémie de Fredrickson type I Occurrence False Congenital Inferred relationship Some
Secondary hypertriglyceridemia Occurrence False Congenital Inferred relationship Some
Primary combined hyperlipidaemia Occurrence False Congenital Inferred relationship Some
Secondary combined hyperlipidemia Occurrence False Congenital Inferred relationship Some
Hypolipidaemia Occurrence False Congenital Inferred relationship Some
LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. Occurrence False Congenital Inferred relationship Some
Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. Occurrence False Congenital Inferred relationship Some
Familial hypobetalipoproteinemia - homozygous form Occurrence True Congenital Inferred relationship Some 1
Familial hypobetalipoproteinaemia - heterozygous form Occurrence True Congenital Inferred relationship Some 1
Apolipoprotein A-I deficiency (disorder) Occurrence False Congenital Inferred relationship Some
Apolipoprotein A-I variant disorder Occurrence False Congenital Inferred relationship Some
Apo A-I Milano variant Occurrence False Congenital Inferred relationship Some
Apo A-I Marburg variant Occurrence False Congenital Inferred relationship Some
ApoA-I Munster variant 1 Occurrence False Congenital Inferred relationship Some
ApoA-I Munster variant 2 Occurrence False Congenital Inferred relationship Some
ApoA-I Munster variant 3 Occurrence False Congenital Inferred relationship Some
Apo A-I Giessen variant (disorder) Occurrence False Congenital Inferred relationship Some
Apo A-I variant fisheye-like syndrome Occurrence False Congenital Inferred relationship Some
Sitosterolemia Occurrence False Congenital Inferred relationship Some
Bone and joint malformation Occurrence False Congenital Inferred relationship Some
Bifid nail Occurrence False Congenital Inferred relationship Some
Congenital fistula of lip Occurrence False Congenital Inferred relationship Some
Interventricular cardiac septal hypertrophy (disorder) Occurrence False Congenital Inferred relationship Some
Linear porokeratosis Occurrence False Congenital Inferred relationship Some
Giant porokeratosis Occurrence False Congenital Inferred relationship Some
Disseminated superficial porokeratosis Occurrence False Congenital Inferred relationship Some
A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial. Occurrence False Congenital Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Occurrence False Congenital Inferred relationship Some
Porokeratosis of Mantoux Occurrence False Congenital Inferred relationship Some
Dilated cardiomyopathy due to phytanic acid storage disease Occurrence False Congenital Inferred relationship Some
Oral lymphangioma Occurrence False Congenital Inferred relationship Some
Idiopathic mid-dermal elastolysis Occurrence False Congenital Inferred relationship Some
Noninflammatory dermal elastolysis Occurrence False Congenital Inferred relationship Some
Localized abdominal wall skin atrophy Occurrence False Congenital Inferred relationship Some
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. Occurrence False Congenital Inferred relationship Some
Juvenile aponeurotic fibroma Occurrence False Congenital Inferred relationship Some
Giant cell fibroblastoma of skin (disorder) Occurrence False Congenital Inferred relationship Some
Aggressive infantile fibromatosis Occurrence False Congenital Inferred relationship Some
Fibromatosis colli Occurrence False Congenital Inferred relationship Some
Juvenile elastofibromatosis (disorder) Occurrence False Congenital Inferred relationship Some
Hutchinson-Gilford syndrome Occurrence True Congenital Inferred relationship Some 1
Metageria Occurrence True Congenital Inferred relationship Some 1
Acrogeria Occurrence True Congenital Inferred relationship Some 1
Infantile restrictive dermopathy Occurrence False Congenital Inferred relationship Some
Neonatal pseudo-hydrocephalic progeroid syndrome Occurrence True Congenital Inferred relationship Some 1
Wrinkly skin syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital diffuse lipomatosis Occurrence False Congenital Inferred relationship Some
Encephalocraniocutaneous lipomatosis (disorder) Occurrence False Congenital Inferred relationship Some
Patent urachal duct Occurrence False Congenital Inferred relationship Some
Eruptive xanthoma Occurrence False Congenital Inferred relationship Some
Plane xanthoma Occurrence False Congenital Inferred relationship Some
Generalized plane xanthoma Occurrence False Congenital Inferred relationship Some
Genodermatosis Occurrence False Congenital Inferred relationship Some
Familial multiple tumor syndrome Occurrence False Congenital Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect Occurrence False Congenital Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia Occurrence False Congenital Inferred relationship Some
Roselli-Gulienetti ectodermal dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Occurrence False Congenital Inferred relationship Some
Basan syndrome Occurrence False Congenital Inferred relationship Some
Greither type of ectodermal dysplasia Occurrence False Congenital Inferred relationship Some
Anonychia with bizarre flexural pigmentation Occurrence False Congenital Inferred relationship Some

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