Hereditary orotic aciduria

ICD-11 code : 3A03.0;

Preferred Label : Hereditary orotic aciduria;

ICD-11 definition : Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.;

Details

Origin ID

449856959;

Currated CISMeF NLP mapping
- Hereditary Orotic Aciduria [NCIt concept]
- Hereditary orotic aciduria [ORDO Disease]
- Hereditary orotic aciduria (disorder) [SNOMED CT concept]
- Orotic aciduria [OMIM Phenotype]
- hereditary orotic aciduria [Disease (Nov.)]
- hereditary orotic aciduria, nos [SNOMED Notion]
ICD-10 Mapping
- Protein deficiency anemia [ICD-10 Sub-category]
Validated automatic mappings to BTNT
- oroticaciduria 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Orotic aciduria [MedDRA LLT]
- Orotic aciduria (disorder) [SNOMED CT concept]
- Oroticaciduria [HPO term]
- Oroticaciduria [MedDRA Preferred Term]
- Protein deficiency anemia [ICD-10 Sub-category]
- orotic aciduria [Disease (Nov.)]
- orotic aciduria [DO Concept]
- orotic aciduria, nos [SNOMED Notion]
- oroticaciduria [CISMeF Querying Strategy]

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