Urea Cycle Metabolism Disorder

Preferred Label : Urea Cycle Metabolism Disorder;

NCIt synonyms : Inborn Urea Cycle Disorder;

NCIt related terms : Disorder of Urea Cycle Metabolism;

NCIt definition : A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.;

Details

Origin ID

C84785;

UMLS CUI

C0154246;

Automatic exact mappings (from CISMeF team)
- metabolism disorder urea cycle [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Disorder of the urea cycle metabolism (disorder) [SNOMED CT concept]
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- Disorders of urea cycle metabolism [ICD-9 code]
- Disorders of urea cycle metabolism [MedDRA LLT]
- disorder of the urea cycle metabolism, nos [SNOMED Notion]
- urea cycle disorder [Disease (Nov.)]
- urea cycle disorder [DO Concept]
- urea cycle disorders, inborn [MeSH Descriptor]
- urea cycle disorders, inborn [MeSH concept]
DO Cross reference
- urea cycle disorder [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of the urea cycle metabolism (disorder) [SNOMED CT concept]
- Disorder of urea cycle metabolism and ammonia detoxification [ORDO Disease]
- Disorders of urea cycle metabolism [ICD-9 code]
- Disorders of urea cycle metabolism [ICD-10 Sub-category]
- Disorders of urea cycle metabolism [ICD-11 Subcategory]
- Disorders of urea cycle metabolism [MedDRA LLT]
- Urea cycle disorder [MedDRA Preferred Term]
- disorder of the urea cycle metabolism, nos [SNOMED Notion]
- urea cycle disorder [DO Concept]
- urea cycle disorder [Disease (Nov.)]
- urea cycle disorders, inborn [MeSH concept]
- urea cycle disorders, inborn [MeSH Descriptor]
Validated automatic mappings to NTBT
- Disorders of urea cycle metabolism [ICD-9 code]
- Disorders of urea cycle metabolism [ICD-10 Sub-category (who)]
- Disorders of urea cycle metabolism [MedDRA LLT]
- disorder of the urea cycle metabolism, nos [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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