Hyperdibasic aminoaciduria type 1

Preferred Label : Hyperdibasic aminoaciduria type 1;

ICD-11 definition : Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit.;

Details

Origin ID

1522058907;

UMLS CUI

C2673736;

Currated CISMeF NLP mapping
- Dibasic amino aciduria I [OMIM Phenotype]
- Hyperdibasic aminoaciduria type 1 [ORDO Disease]
- dibasic amino aciduria I [MeSH concept]
- dibasic amino aciduria I [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dibasic amino aciduria I [OMIM Phenotype]
- Hyperdibasic aminoaciduria type 1 [ORDO Disease]
- dibasic amino aciduria I [MeSH concept]
- dibasic amino aciduria I [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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