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255399007: Congenital (qualifier value)

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

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Disorder of cholesterol synthesis Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of lipoprotein storage and metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Familial combined hyperlipidemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of glycosaminoglycan metabolism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mucopolysaccharidosis type IVB Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Disorder of glycoprotein metabolism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Beta-D-mannosidosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Alpha-N-acetylgalactosaminidase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Carbohydrate-deficient glycoprotein syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Disorder of sialic acid metabolism Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sialuria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Disorder of porphyrin and heme metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Homozygous erythropoietic protoporphyria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Homozygous acute intermittent porphyria Occurrence False Congenital Inferred relationship Existential restriction modifier
Homozygous hereditary coproporphyria Occurrence False Congenital Inferred relationship Existential restriction modifier
Homozygous variegate porphyria Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of peroxisomal function Occurrence True Congenital Inferred relationship Existential restriction modifier 1
General loss of peroxisomal function Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neonatal adrenoleukodystrophy Occurrence False Congenital Inferred relationship Existential restriction modifier
Infantile Refsum's disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Loss of multiple peroxisomal functions Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Zellweger's-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pseudoinfantile Refsum's disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Loss of single peroxisomal function Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peroxisomal thiolase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bifunctional peroxisomal enzyme deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Acyl-coenzyme A oxidase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Glutaryl-coenzyme A oxidase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isolated dihydroxyacetone phosphate acyltransferase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isolated alkyldihydroxyacetone phosphate synthase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Primary hypercholesterolemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Polygenic hypercholesterolemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Familial hypercholesterolemia - homozygous Occurrence False Congenital Inferred relationship Existential restriction modifier
Familial hypercholesterolemia - heterozygous Occurrence False Congenital Inferred relationship Existential restriction modifier
Hyperalphalipoproteinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Familial defective apolipoprotein B-100 Occurrence False Congenital Inferred relationship Existential restriction modifier
Secondary hypercholesterolemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Primary hypertriglyceridemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Fredrickson type IV hyperlipoproteinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Fredrickson type I hyperlipoproteinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Secondary hypertriglyceridemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Primary combined hyperlipidemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Secondary combined hyperlipidemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Hypolipidemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Lecithin cholesterol acyltransferase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Fish-eye disease Occurrence False Congenital Inferred relationship Existential restriction modifier
Familial hypobetalipoproteinemia - homozygous form Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Familial hypobetalipoproteinemia - heterozygous form Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Apolipoprotein A-I deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Apolipoprotein A-I variant disorder Occurrence False Congenital Inferred relationship Existential restriction modifier
Apo A-I Milano variant Occurrence False Congenital Inferred relationship Existential restriction modifier
Apo A-I Marburg variant Occurrence False Congenital Inferred relationship Existential restriction modifier
ApoA-I Munster variant 1 Occurrence False Congenital Inferred relationship Existential restriction modifier
ApoA-I Munster variant 2 Occurrence False Congenital Inferred relationship Existential restriction modifier
ApoA-I Munster variant 3 Occurrence False Congenital Inferred relationship Existential restriction modifier
Apo A-I Giessen variant Occurrence False Congenital Inferred relationship Existential restriction modifier
Apo A-I variant fisheye-like syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier
Sitosterolemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Bone and joint malformation Occurrence False Congenital Inferred relationship Existential restriction modifier
Bifid nail Occurrence False Congenital Inferred relationship Existential restriction modifier
Congenital fistula of lip Occurrence False Congenital Inferred relationship Existential restriction modifier
Interventricular cardiac septal hypertrophy Occurrence False Congenital Inferred relationship Existential restriction modifier
Linear porokeratosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Giant porokeratosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Disseminated superficial porokeratosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Acrokerato-elastoidosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Howel-Evans' syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier
Porokeratosis of Mantoux Occurrence False Congenital Inferred relationship Existential restriction modifier
Dilated cardiomyopathy due to phytanic acid storage disease Occurrence False Congenital Inferred relationship Existential restriction modifier
Oral lymphangioma Occurrence False Congenital Inferred relationship Existential restriction modifier
Idiopathic mid-dermal elastolysis Occurrence False Congenital Inferred relationship Existential restriction modifier
Noninflammatory dermal elastolysis Occurrence False Congenital Inferred relationship Existential restriction modifier
Localized abdominal wall skin atrophy Occurrence False Congenital Inferred relationship Existential restriction modifier
Juvenile hyaline fibromatosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Juvenile aponeurotic fibroma Occurrence False Congenital Inferred relationship Existential restriction modifier
Giant cell fibroblastoma of skin Occurrence False Congenital Inferred relationship Existential restriction modifier
Aggressive infantile fibromatosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Fibromatosis colli Occurrence False Congenital Inferred relationship Existential restriction modifier
Juvenile elastofibromatosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Hutchinson-Gilford syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Metageria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Acrogeria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Infantile restrictive dermopathy Occurrence False Congenital Inferred relationship Existential restriction modifier
Neonatal pseudo-hydrocephalic progeroid syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Wrinkly skin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital diffuse lipomatosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Encephalocraniocutaneous lipomatosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Patent urachal duct Occurrence False Congenital Inferred relationship Existential restriction modifier
Eruptive xanthoma Occurrence False Congenital Inferred relationship Existential restriction modifier
Plane xanthoma Occurrence False Congenital Inferred relationship Existential restriction modifier
Generalized plane xanthoma Occurrence False Congenital Inferred relationship Existential restriction modifier
Genodermatosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Familial multiple tumor syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier
Ectodermal dysplasia with hair-tooth-nail-sweating defect Occurrence False Congenital Inferred relationship Existential restriction modifier
Hypohidrotic X-linked ectodermal dysplasia Occurrence False Congenital Inferred relationship Existential restriction modifier
Roselli-Gulienetti ectodermal dysplasia Occurrence False Congenital Inferred relationship Existential restriction modifier
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Occurrence False Congenital Inferred relationship Existential restriction modifier
Basan syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier
Greither type of ectodermal dysplasia Occurrence False Congenital Inferred relationship Existential restriction modifier
Anonychia with bizarre flexural pigmentation Occurrence False Congenital Inferred relationship Existential restriction modifier

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