Ornithine Transcarbamylase Deficiency

Preferred Label : Ornithine Transcarbamylase Deficiency;

Obsolete resource : true;

NCIt definition : An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine transcarbamylase, resulting in the accumulation of ammonia in the serum. Symptoms include vomiting, lethargy, and coma.;

NCIt note : See 'Ornithine Carbamoyltransferase Deficiency Disease';

Concept status : Retired_Concept;

Details

Origin ID

C84960;

UMLS CUI

C0268542;

Automatic exact mappings (from CISMeF team)
- Ornithine carbamoyltransferase deficiency (disorder) [SNOMED CT concept]
- Ornithine transcarbamylase deficiency [ORDO Disease]
- Ornithine transcarbamylase deficiency [MedDRA LLT]
- ornithine carbamoyltransferase deficiency [SNOMED Notion]
- ornithine carbamoyltransferase deficiency disease [MeSH Descriptor]
- ornithine carbamoyltransferase deficiency disease [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ornithine carbamoyltransferase deficiency [MedDRA LLT]
- Ornithine carbamoyltransferase deficiency [ICD-11 More detail]
- Ornithine carbamoyltransferase deficiency [PASCAL descriptor]
- Ornithine carbamoyltransferase deficiency (disorder) [SNOMED CT concept]
- Ornithine transcarbamoylase deficiency [MedDRA Preferred Term]
- Ornithine transcarbamylase deficiency [ORDO Disease]
- Ornithine transcarbamylase deficiency [MedDRA LLT]
- Ornithine transcarbamylase deficiency, hyperammonemia due to [OMIM Phenotype]
- ornithine carbamoyltransferase deficiency [SNOMED Notion]
- ornithine carbamoyltransferase deficiency [DO Concept]
- ornithine carbamoyltransferase deficiency disease [MeSH Descriptor]
- ornithine carbamoyltransferase deficiency disease [MeSH concept]
- ornithine transcarbamylase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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