Hereditary Orotic Aciduria

Preferred Label : Hereditary Orotic Aciduria;

NCIt definition : An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.;

Détails

Origin ID

C98944;

UMLS CUI

C0220987;

Currated CISMeF NLP mapping
- Hereditary orotic aciduria [ORDO Disease]
- Hereditary orotic aciduria [ICD-11 Subcategory]
- Hereditary orotic aciduria (disorder) [SNOMED CT concept]
- Orotic aciduria [OMIM Phenotype]
- Oroticaciduria [HPO term]
- hereditary orotic aciduria [Disease (Nov.)]
- hereditary orotic aciduria, nos [SNOMED Notion]
- oroticaciduria 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary orotic aciduria (disorder) [SNOMED CT concept]
- hereditary orotic aciduria [Disease (Nov.)]
- hereditary orotic aciduria, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- orotic aciduria [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- UMPS Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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