succinate-semialdehyde dehydrogenase deficiency - CISMeF

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CISMeF

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Succinate-semialdehyde dehydrogenase deficiencySNOMED Notion

Preferred Label : succinate-semialdehyde dehydrogenase deficiency;

Details

Origin ID

D6-B6110;

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 [ORDO Disease]
- Succinic semialdehyde dehydrogenase deficiency [OMIM Phenotype]
- succinic semialdehyde dehydrogenase deficiency [DO Concept]
- succinic semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
- succinic semialdehyde dehydrogenase deficiency [MeSH concept]
ICD-10 exact mapping(s)
- Other disorders of aromatic amino-acid metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Disorder of biogenic amine metabolism and transport [ORDO Disease]
- Disorder of gamma-aminobutyric acid metabolism [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- succinate-semialdehyde dehydrogenase [SNOMED Notion]
SNOMED CT concept
- Succinate-semialdehyde dehydrogenase deficiency (disorder) [SNOMED CT 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]
- succinic semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
- succinic semialdehyde dehydrogenase deficiency [MeSH concept]
- succinic semialdehyde dehydrogenase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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16/05/2024

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