succinic semialdehyde dehydrogenase deficiency

Preferred Label : succinic semialdehyde dehydrogenase deficiency;

CISMeF synonym : gamma-hydroxybutyricaciduria;

MeSH synonym : 4-hydroxybutyric aciduria; Gamma-Hydroxybutyric aciduria; SSADH deficiency; Gamma-Hydroxybutyric acidemia; 4-Hydroxybutyricaciduria;

Details

Origin ID

C535803;

UMLS CUI

C0268631;

CISMeF manual mappings
- Succinic semialdehyde dehydrogenase deficiency [ORDO Disease]
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]
- succinate-semialdehyde dehydrogenase deficiency [SNOMED Notion]
- succinic semialdehyde dehydrogenase deficiency [DO Concept]
DO Cross reference
- succinic semialdehyde dehydrogenase deficiency [DO Concept]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- developmental disabilities [MeSH Descriptor]
- succinate-semialdehyde dehydrogenase [MeSH Descriptor]
Record concept(s)
- succinic semialdehyde dehydrogenase deficiency [MeSH concept]
See also (suggested by CISMeF)
- 4-hydroxybutyric acid [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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