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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
Autosomal recessive hypophosphatemic bone disease Occurrence False Congenital Inferred relationship Existential restriction modifier
Vitamin D-dependent rickets type I Occurrence False Congenital Inferred relationship Existential restriction modifier
Vitamin D-dependent rickets type II Occurrence False Congenital Inferred relationship Existential restriction modifier
Vitamin D-dependent rickets type II with alopecia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Vitamin D-dependent rickets type II without alopecia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Disorder of amino acid and organic acid metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of tetrahydrobiopterin metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Fumarylacetoacetase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Waardenburg syndrome type 3 Occurrence False Congenital Inferred relationship Existential restriction modifier
Minimal pigment oculocutaneous albinism Occurrence False Congenital Inferred relationship Existential restriction modifier
Temperature-sensitive oculocutaneous albinism Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of catecholamine synthesis Occurrence False Congenital Inferred relationship Existential restriction modifier
Aromatic amino acid decarboxylase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Dopamine beta-hydroxylase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Aminoacyl-histidine dipeptidase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Tryptophanemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Glutathione synthase deficiency without 5-oxoprolinuria Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of ornithine metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of lysine and hydroxylysine metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
2-Ketoadipic acidemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Methionine malabsorption syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier
Transcobalamin I deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Transcobalamin II deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Deficiency of Cobalamin E Occurrence False Congenital Inferred relationship Existential restriction modifier
Deficiency of Cobalamin G Occurrence False Congenital Inferred relationship Existential restriction modifier
Non-ketotic hyperglycinemia Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of beta and omega amino acid metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Gamma-aminobutyric acid transaminase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Complete deficiency of methylmalonyl-coenzyme A mutase Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Partial deficiency of methylmalonyl-coenzyme A mutase Occurrence True Congenital Inferred relationship Existential restriction modifier 1
3-Methylglutaconic aciduria Occurrence False Congenital Inferred relationship Existential restriction modifier
3-Methylglutaconic aciduria type 1 Occurrence False Congenital Inferred relationship Existential restriction modifier
3-Methylglutaconic aciduria with normal 3-methylglutaconyl-coenzyme A hydratase activity Occurrence False Congenital Inferred relationship Existential restriction modifier
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated Occurrence False Congenital Inferred relationship Existential restriction modifier
Mitochondrial 2-methylacetoacetyl-coenzyme A thiolase deficiency - non-potassium stimulated Occurrence False Congenital Inferred relationship Existential restriction modifier
Cytosolic acetoacetyl-coenzyme A thiolase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
3-Hydroxyisobutyric aciduria Occurrence False Congenital Inferred relationship Existential restriction modifier
Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Trimethylaminuria Occurrence False Congenital Inferred relationship Existential restriction modifier
D-2-hydroxyglutaric aciduria Occurrence False Congenital Inferred relationship Existential restriction modifier
L-2-hydroxyglutaric aciduria Occurrence False Congenital Inferred relationship Existential restriction modifier
Glycogen synthase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Phosphate transport defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Glucose transport defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lysosomal alpha-1,4-glucosidase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Lysosomal alpha-1,4-glucosidase deficiency - infantile onset Occurrence False Congenital Inferred relationship Existential restriction modifier
Lysosomal alpha-1,4-glucosidase deficiency - juvenile onset Occurrence False Congenital Inferred relationship Existential restriction modifier
Lysosomal alpha-1,4-glucosidase deficiency - adult onset Occurrence False Congenital Inferred relationship Existential restriction modifier
Hepatic glycogen phosphorylase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of pyruvate metabolism and mitochondrial respiratory chain Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lactate dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Fumarase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Neurogenic muscle weakness, ataxia and retinitis pigmentosa Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pearson's syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Disorder of mitochondrial respiratory chain complexes Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deficiency in enzyme complexes of mitochondrial respiratory chain Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Succinate-coenzyme Q reductase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ubiquinone dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cytochrome C oxidase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Complex V deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Combined complex deficiencies Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deletion and duplication of mitochondrial deoxyribonucleic acid Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Depletion of mitochondrial deoxyribonucleic acid Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Long chain acyl-coenzyme A dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Very long chain acyl-coenzyme A dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitochondrial trifunctional protein deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Combined deficiency of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and enoyl-coenzyme A hydratase Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Carnitine palmitoyltransferase I deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Carnitine acylcarnitine translocase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Succinyl-coenzyme A acetoacetate transferase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Disorder of purine and pyrimidine metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Adenine phosphoribosyl transferase deficiency type I Occurrence False Congenital Inferred relationship Existential restriction modifier
Adenine phosphoribosyl transferase deficiency type II Occurrence False Congenital Inferred relationship Existential restriction modifier
Inosine triphosphate pyrophosphohydrolase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Thiopurine methyltransferase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Cytosine diphosphate choline phosphotransferase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Dihydropyrimidinase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Dihydropyrimidine dehydrogenase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of lipid storage and metabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
Total hexosaminidase deficiency - infantile Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Total hexosaminidase deficiency - juvenile Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Total hexosaminidase deficiency - adult Occurrence False Congenital Inferred relationship Existential restriction modifier 3
B variant hexosaminidase A deficiency - infantile Occurrence True Congenital Inferred relationship Existential restriction modifier 1
B variant hexosaminidase A deficiency - juvenile Occurrence False Congenital Inferred relationship Existential restriction modifier 3
B variant hexosaminidase A deficiency - adult Occurrence True Congenital Inferred relationship Existential restriction modifier 1
B1 variant hexosaminidase A deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
GM1 gangliosidosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Infantile GM1 gangliosidosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Adult GM1 gangliosidosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Sphingolipidosis Occurrence False Congenital Inferred relationship Existential restriction modifier
Galactocerebroside beta-galactosidase deficiency - early onset Occurrence False Congenital Inferred relationship Existential restriction modifier
Arylsulfatase A deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of cholesterol catabolism Occurrence False Congenital Inferred relationship Existential restriction modifier
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Delta-4-3-oxosteroid-5-beta-reductase deficiency Occurrence False Congenital Inferred relationship Existential restriction modifier
Disorder of cholesterol synthesis Occurrence False Congenital Inferred relationship Existential restriction modifier

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