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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
Autosomal recessive hypophosphatemic bone disease Occurrence False Congenital Inferred relationship Some
Vitamin D-dependent rickets type I Occurrence False Congenital Inferred relationship Some
Vitamin D-dependent rickets type II Occurrence False Congenital Inferred relationship Some
Vitamin D-dependent rickets type II with alopecia Occurrence True Congenital Inferred relationship Some 1
Vitamin D-dependent rickets type II without alopecia Occurrence True Congenital Inferred relationship Some 1
Disorder of amino acid and organic acid metabolism Occurrence False Congenital Inferred relationship Some
Disorder of tetrahydrobiopterin metabolism Occurrence False Congenital Inferred relationship Some
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency Occurrence False Congenital Inferred relationship Some
Fumarylacetoacetase deficiency Occurrence False Congenital Inferred relationship Some
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Occurrence False Congenital Inferred relationship Some
Minimal pigment oculocutaneous albinism Occurrence False Congenital Inferred relationship Some
Temperature-sensitive oculocutaneous albinism (disorder) Occurrence False Congenital Inferred relationship Some
Disorder of catecholamine synthesis Occurrence False Congenital Inferred relationship Some
déficit en décarboxylase des acides aminés aromatiques Occurrence False Congenital Inferred relationship Some
Dopamine beta-hydroxylase deficiency Occurrence False Congenital Inferred relationship Some
Aminoacyl-histidine dipeptidase deficiency Occurrence False Congenital Inferred relationship Some
Tryptophanemia Occurrence False Congenital Inferred relationship Some
Glutathione synthase deficiency without 5-oxoprolinuria Occurrence False Congenital Inferred relationship Some
Disorder of ornithine metabolism (disorder) Occurrence False Congenital Inferred relationship Some
Disorder of lysine and hydroxylysine metabolism Occurrence False Congenital Inferred relationship Some
2-Ketoadipic acidemia Occurrence False Congenital Inferred relationship Some
Methionine malabsorption syndrome Occurrence False Congenital Inferred relationship Some
Transcobalamin I deficiency Occurrence False Congenital Inferred relationship Some
Transcobalamin II deficiency Occurrence False Congenital Inferred relationship Some
Deficiency of Cobalamin E (disorder) Occurrence False Congenital Inferred relationship Some
Deficiency of Cobalamin G (disorder) Occurrence False Congenital Inferred relationship Some
Non-ketotic hyperglycinaemia Occurrence False Congenital Inferred relationship Some
Disorder of beta and omega amino acid metabolism Occurrence False Congenital Inferred relationship Some
Gamma-aminobutyric acid transaminase deficiency Occurrence False Congenital Inferred relationship Some
Complete deficiency of methylmalonyl-CoA mutase Occurrence True Congenital Inferred relationship Some 1
Partial deficiency of methylmalonyl-CoA mutase Occurrence True Congenital Inferred relationship Some 1
3-Methylglutaconic aciduria (disorder) Occurrence False Congenital Inferred relationship Some
3-Methylglutaconic aciduria type 1 Occurrence False Congenital Inferred relationship Some
3-Methylglutaconic aciduria with normal 3-methylglutaconyl-CoA hydratase activity Occurrence False Congenital Inferred relationship Some
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated Occurrence False Congenital Inferred relationship Some
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - non-potassium stimulated Occurrence False Congenital Inferred relationship Some
Cytosolic acetoacetyl-CoA thiolase deficiency Occurrence False Congenital Inferred relationship Some
3-Hydroxyisobutyric aciduria Occurrence False Congenital Inferred relationship Some
Beta-hydroxyisobutyryl-coenzyme A deacylase deficiency Occurrence False Congenital Inferred relationship Some
Trimethylaminuria Occurrence False Congenital Inferred relationship Some
D-2(OH) glutaric aciduria Occurrence False Congenital Inferred relationship Some
L-2(OH) glutaric aciduria Occurrence False Congenital Inferred relationship Some
Glycogen synthase deficiency Occurrence True Congenital Inferred relationship Some 3
Phosphate transport defect Occurrence True Congenital Inferred relationship Some 1
Glucose transport defect Occurrence True Congenital Inferred relationship Some 1
Lysosomal alpha-1,4-glucosidase deficiency Occurrence False Congenital Inferred relationship Some
Lysosomal alpha-1,4-glucosidase deficiency - infantile onset Occurrence False Congenital Inferred relationship Some
Lysosomal alpha-1,4-glucosidase deficiency - juvenile onset Occurrence False Congenital Inferred relationship Some
Lysosomal alpha-1,4-glucosidase deficiency - adult onset Occurrence False Congenital Inferred relationship Some
Hepatic glycogen phosphorylase deficiency Occurrence False Congenital Inferred relationship Some
Disorder of pyruvate metabolism and mitochondrial respiratory chain Occurrence True Congenital Inferred relationship Some 1
Lactate dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Fumarate hydratase deficiency Occurrence True Congenital Inferred relationship Some 1
A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. Occurrence True Congenital Inferred relationship Some 1
Pearson's syndrome Occurrence True Congenital Inferred relationship Some 3
Disorder of mitochondrial respiratory chain complexes Occurrence True Congenital Inferred relationship Some 1
Deficiency in enzyme complexes of mitochondrial respiratory chain Occurrence True Congenital Inferred relationship Some 1
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Occurrence True Congenital Inferred relationship Some 1
Succinate-coenzyme Q reductase deficiency Occurrence True Congenital Inferred relationship Some 1
Ubiquinone dehydrogenase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Cytochrome C oxidase deficiency Occurrence False Congenital Inferred relationship Some
Complex V deficiency Occurrence False Congenital Inferred relationship Some
Combined complex deficiencies Occurrence True Congenital Inferred relationship Some 1
Deletion and duplication of mitochondrial DNA Occurrence True Congenital Inferred relationship Some 1
Depletion of mitochondrial DNA Occurrence True Congenital Inferred relationship Some 1
Long chain acyl-coenzyme A dehydrogenase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Very long chain acyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Mitochondrial trifunctional protein deficiency Occurrence True Congenital Inferred relationship Some 1
Combined deficiency of long chain 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase Occurrence True Congenital Inferred relationship Some 1
Carnitine palmitoyltransferase I deficiency Occurrence True Congenital Inferred relationship Some 1
Carnitine palmitoyltransferase II deficiency Occurrence True Congenital Inferred relationship Some 1
Carnitine acylcarnitine translocase deficiency Occurrence True Congenital Inferred relationship Some 1
Succinyl-coenzyme A acetoacetate transferase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Disorder of purine and pyrimidine metabolism Occurrence False Congenital Inferred relationship Some
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Occurrence False Congenital Inferred relationship Some
Adenine phosphoribosyl transferase deficiency type I Occurrence False Congenital Inferred relationship Some
Adenine phosphoribosyl transferase deficiency type II Occurrence False Congenital Inferred relationship Some
Inosine triphosphate pyrophosphohydrolase deficiency Occurrence False Congenital Inferred relationship Some
Thiopurine methyltransferase deficiency Occurrence False Congenital Inferred relationship Some
Cytosine diphosphate choline phosphotransferase deficiency Occurrence False Congenital Inferred relationship Some
Dihydropyrimidinase deficiency Occurrence False Congenital Inferred relationship Some
Dihydropyrimidine dehydrogenase deficiency Occurrence False Congenital Inferred relationship Some
Disorder of lipid storage and metabolism Occurrence False Congenital Inferred relationship Some
Total hexosaminidase deficiency - infantile Occurrence True Congenital Inferred relationship Some 1
Total hexosaminidase deficiency - juvenile Occurrence False Congenital Inferred relationship Some 3
Total hexosaminidase deficiency - adult Occurrence False Congenital Inferred relationship Some 3
B variant hexosaminidase A deficiency - infantile Occurrence True Congenital Inferred relationship Some 1
B variant hexosaminidase A deficiency - juvenile Occurrence False Congenital Inferred relationship Some 3
B variant hexosaminidase A deficiency - adult Occurrence True Congenital Inferred relationship Some 1
B1 variant hexosaminidase A deficiency Occurrence True Congenital Inferred relationship Some 1
GM1 gangliosidosis Occurrence False Congenital Inferred relationship Some
Infantile GM1 gangliosidosis Occurrence False Congenital Inferred relationship Some
Adult GM1 gangliosidosis Occurrence False Congenital Inferred relationship Some
Sphingolipidosis Occurrence False Congenital Inferred relationship Some
Galactocerebroside beta-galactosidase deficiency - early onset Occurrence False Congenital Inferred relationship Some
Arylsulfatase A deficiency Occurrence False Congenital Inferred relationship Some
Disorder of cholesterol catabolism Occurrence False Congenital Inferred relationship Some
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption. Occurrence False Congenital Inferred relationship Some
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. Occurrence False Congenital Inferred relationship Some
Disorder of cholesterol synthesis Occurrence False Congenital Inferred relationship Some

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