255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

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

Descriptions:

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 (disorder)	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 (disorder)	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 (disorder)	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 hypercholesterolemia - 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	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 hyperlipoproteinemia	Occurrence	False	Congenital	Inferred relationship	Some
familiær lipoproteinlipasemangel	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
A rare lipoprotein metabolism disorder characterised clinically by corneal opacities and sometimes renal failure and haemolytic anaemia, and biochemically by severely reduced HDL cholesterol. Age of onset is variable but most patients are diagnosed during adulthood. Two familial forms of LCAT deficiency have been reported: familial LCAT deficiency characterised by corneal opacities, anaemia and renal insufficiency and Fish-eye disease characterised by corneal opacities and sometimes atherosclerosis. LCAT deficiency is caused by deficient or absent catalytic activity of the LCAT enzyme, which catalyses the formation of cholesterol esters in lipoproteins and is encoded by the LCAT gene (16q22.1). Accumulation of unesterified cholesterol in the body for example in the cornea, erythrocytes and kidneys, is thought to underlie the clinical manifestations.	Occurrence	False	Congenital	Inferred relationship	Some
A form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterised clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. The disease is very rare. Corneal opacities are progressive and are observed from an early age (adolescence or young adulthood) and sometimes result in visual impairment. These lesions are generally more severe than in complete LCAT deficiency and form a mosaic pattern of small dot-like grey-white opacities. Signs of atherosclerosis have only been reported in rare cases although patients have low HDL cholesterol levels. In patients with this disorder, alpha-LCAT activity is abolished, but beta-LCAT activity is preserved. Impaired enzyme function is thought to result in deposition of lipids in the cornea. The disease follows an autosomal recessive pattern of inheritance.	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	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	Occurrence	False	Congenital	Inferred relationship	Some
Apo A-I variant fisheye-like syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Sitosterolaemia	Occurrence	False	Congenital	Inferred relationship	Some
Knogle- og ledmisdannelse	Occurrence	False	Congenital	Inferred relationship	Some
Bifid nail	Occurrence	False	Congenital	Inferred relationship	Some
Congenital fistula of lip (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Interventricular cardiac septal hypertrophy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Linear porokeratosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Giant porokeratosis	Occurrence	False	Congenital	Inferred relationship	Some
Disseminated superficial porokeratosis	Occurrence	False	Congenital	Inferred relationship	Some
A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight.	Occurrence	False	Congenital	Inferred relationship	Some
A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer.	Occurrence	False	Congenital	Inferred relationship	Some
Porokeratose (Mantoux' syndrom)	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
lokaliseret hudatrofi på abdominalvæggen	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	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 (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital diffuse lipomatosis	Occurrence	False	Congenital	Inferred relationship	Some
Encephalocraniocutaneous lipomatosis	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 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Familiært multitumorsyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hypohidrotic X-linked ectodermal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Roselli-Gulienetti ectodermal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Basan syndrome (disorder)	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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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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)