ornithine carbamoyltransferase deficiency disease

Preferred Label : ornithine carbamoyltransferase deficiency disease;

MeSH definition : An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50);

MeSH synonym : deficiency disease, ornithine transcarbamylase; deficiency disease, ornithine carbamoyltransferase; ornithine transcarbamylase deficiency disease; Ornithine Transcarbamylase Deficiency; Deficiencies, Ornithine Transcarbamylase; Deficiency, Ornithine Transcarbamylase; Ornithine Transcarbamylase Deficiencies; OTC Deficiency; Deficiencies, OTC; Deficiency, OTC; OTC Deficiencies; ornithine carbamoyltransferase deficiency; ornithine transcarbamylase deficiency, hyperammonemia due to;

Wikipedia link : https://en.wikipedia.org/wiki/Ornithine carbamoyltransferase deficiency;

Details

Origin ID

D020163;

UMLS CUI

C0268542;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Disorders of ornithine metabolism [ICD-10 Sub-category]
- Ornithine Transcarbamylase Deficiency [NCIt concept]
- ornithine transcarbamylase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Ornithine Carbamoyltransferase Deficiency Disease [NCIt concept]
- Ornithine carbamoyltransferase deficiency [ICD-11 More detail]
- Ornithine carbamoyltransferase deficiency [PASCAL descriptor]
- Ornithine carbamoyltransferase deficiency [MedDRA LLT]
- 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 transcarbamylase deficiency [Disease (Nov.)]
DO Cross reference
- ornithine carbamoyltransferase deficiency [DO Concept]
Manual NTBT mappings (CISMeF)
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
- Syndromic neurometabolic disease with X-linked intellectual disability [ORDO Disease]
MeSH Descriptor(s) used for indexing
- ornithine carbamoyltransferase [MeSH Descriptor]
ORDO relation(s)
- Ornithine transcarbamylase deficiency [ORDO Disease]
Record concept(s)
- ornithine carbamoyltransferase deficiency disease [MeSH concept]
See also
- ornithine carbamoyltransferase [MeSH Descriptor]
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 [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 [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 transcarbamylase deficiency [Disease (Nov.)]

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