succinic semialdehyde dehydrogenase deficiency

Preferred Label : succinic semialdehyde dehydrogenase deficiency;

CISMeF synonym : Gamma-hydroxybutyricaciduria;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0530264;

UMLS CUI

C0268631;

Currated CISMeF NLP mapping
- 4-hydroxybutyric aciduria [ICD-11 More detail]
- Succinate-semialdehyde dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Succinic semialdehyde dehydrogenase deficiency [OMIM Phenotype]
- Succinic semialdehyde dehydrogenase deficiency [ORDO Disease]
- succinate-semialdehyde dehydrogenase deficiency [SNOMED Notion]
- succinic semialdehyde dehydrogenase deficiency [DO Concept]
Related record
- succinic semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4-hydroxybutyric aciduria [ICD-11 More detail]
- Succinate-semialdehyde dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Succinic semialdehyde dehydrogenase deficiency [OMIM Phenotype]
- Succinic semialdehyde dehydrogenase deficiency [ORDO Disease]
- succinate-semialdehyde dehydrogenase deficiency [SNOMED Notion]
- succinic semialdehyde dehydrogenase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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