Ornithine Carbamoyltransferase Deficiency Disease

Preferred Label : Ornithine Carbamoyltransferase Deficiency Disease;

NCIt synonyms : Ornithine Transcarbamylase Deficiency;

NCIt related terms : Ornithine Carbamoyltransferase Deficiency;

NCIt definition : An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.;

Details

Origin ID

C84957;

UMLS CUI

C0268542;

Automatic exact mappings (from CISMeF team)
- Disorders of ornithine metabolism [ICD-10 Sub-category]
- ornithine transcarbamylase [ORDO Gene]
- ornithine transcarbamylase [HGNC gene]
- ornithine transcarbamylase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Ornithine carbamoyltransferase deficiency [MedDRA LLT]
- Ornithine carbamoyltransferase deficiency [PASCAL descriptor]
- Ornithine carbamoyltransferase deficiency [ICD-11 More detail]
- 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 [SNOMED Notion]
- ornithine carbamoyltransferase deficiency [DO Concept]
- ornithine carbamoyltransferase deficiency disease [MeSH Descriptor]
- ornithine carbamoyltransferase deficiency disease [MeSH concept]
- ornithine transcarbamylase deficiency [Disease (Nov.)]
DO Cross reference
- ornithine carbamoyltransferase deficiency [DO 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 [DO Concept]
- ornithine carbamoyltransferase deficiency [SNOMED Notion]
- ornithine carbamoyltransferase deficiency disease [MeSH Descriptor]
- ornithine carbamoyltransferase deficiency disease [MeSH concept]
- ornithine transcarbamylase deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- OTC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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