Ornithine carbamoyltransferase deficiency

Preferred Label : Ornithine carbamoyltransferase deficiency;

ICD-11 definition : Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders.;

ICD-11 synonym : OCT deficiency; Ornithine carbamyltransferase deficiency; OCT - [Ornithine carbamyltransferase] deficiency; Ornithine transcarbamoylase deficiency; Ornithine transcarbamylase deficiency;

Details

Origin ID

1822444026;

UMLS CUI

C0268542;

Automatic exact mappings (from CISMeF team)
- ornithine transcarbamylase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Ornithine Carbamoyltransferase Deficiency Disease [NCIt concept]
- Ornithine carbamoyltransferase deficiency [MedDRA LLT]
- 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.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ornithine Carbamoyltransferase Deficiency Disease [NCIt concept]
- Ornithine Transcarbamylase Deficiency [NCIt concept]
- Ornithine carbamoyltransferase deficiency [MedDRA LLT]
- Ornithine carbamoyltransferase deficiency [PASCAL descriptor]
- Ornithine carbamoyltransferase deficiency (disorder) [SNOMED CT concept]
- Ornithine transcarbamoylase deficiency [MedDRA Preferred Term]
- Ornithine transcarbamylase deficiency [MedDRA LLT]
- Ornithine transcarbamylase deficiency [ORDO Disease]
- Ornithine transcarbamylase deficiency, hyperammonemia due to [OMIM Phenotype]
- ornithine carbamoyltransferase deficiency [DO Concept]
- ornithine carbamoyltransferase deficiency [SNOMED Notion]
- ornithine carbamoyltransferase deficiency disease [MeSH Descriptor]
- ornithine carbamoyltransferase deficiency disease [MeSH concept]
- ornithine transcarbamylase deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- Disorders of ornithine metabolism [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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