Hereditary orotic aciduria type 1

Preferred Label : Hereditary orotic aciduria type 1;

ICD-11 synonym : Combined orotate phosphoribosyltransferase and orotate-5-phosphate decarboxylase deficiency; Uridine monophosphate synthase deficiency;

Details

Origin ID

543808207;

UMLS CUI

C0268130;

Currated CISMeF NLP mapping
- Hereditary orotic aciduria [ORDO Disease]
- Hereditary orotic aciduria, type 1 (disorder) [SNOMED CT concept]
- hereditary orotic aciduria, type 1 [SNOMED Notion]
- oroticaciduria 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary orotic aciduria, type 1 (disorder) [SNOMED CT concept]
- Orotic aciduria [OMIM Phenotype]
- Oroticaciduria 1 [MeSH concept]
- hereditary orotic aciduria, type 1 [SNOMED Notion]
- oroticaciduria 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Orotic aciduria [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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