Valinemia - CISMeF

Preferred Label : Valinemia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : HYPERVALINEMIA; Valine transaminase deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : 277100;

Details

Origin ID

277100;

UMLS CUI

C0268573;

Automatic exact mappings (from CISMeF team)
- Other disorders of branched-chain amino-acid metabolism [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Hypervalinaemia [ICD-11 More detail]
- Hypervalinemia [HPO term]
- Hypervalinemia (disorder) [SNOMED CT concept]
- Valinemia [MeSH concept]
- hypervalinemia [SNOMED Notion]
- valinemia [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Drowsiness [HPO term]
- Failure to thrive [HPO term]
- Hyperkinetic movements [HPO term]
- Hypervalinemia [HPO term]
- Muscle weakness [HPO term]
- Valinuria [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypervalinaemia [ICD-11 More detail]
- Hypervalinemia [HPO term]
- Hypervalinemia (disorder) [SNOMED CT concept]
- Valinemia [MeSH concept]
- hypervalinemia [SNOMED Notion]
- valinemia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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