oroticaciduria 1

Preferred Label : oroticaciduria 1;

MeSH synonym : orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; orotate phosphoribosyltransferase and omp decarboxylase deficiency; uridine monophosphate synthetase deficiency; uridine monophosphate synthase deficiency;

Détails

Origin ID

C537136;

UMLS CUI

C0268130;

CISMeF manual mappings
- Hereditary orotic aciduria [ORDO Disease]
Currated CISMeF NLP mapping
- Hereditary Orotic Aciduria [NCIt concept]
- Hereditary orotic aciduria (disorder) [SNOMED CT concept]
- Hereditary orotic aciduria type 1 [ICD-11 More detail]
- Hereditary orotic aciduria, type 1 (disorder) [SNOMED CT concept]
- Orotic aciduria [MedDRA LLT]
- Orotic aciduria [OMIM Phenotype]
- Orotic aciduria (disorder) [SNOMED CT concept]
- Oroticaciduria [HPO term]
- Oroticaciduria [MedDRA Preferred Term]
- hereditary orotic aciduria [Disease (Nov.)]
- hereditary orotic aciduria, nos [SNOMED Notion]
- hereditary orotic aciduria, type 1 [SNOMED Notion]
- orotic aciduria [Disease (Nov.)]
- orotic aciduria [DO Concept]
- oroticaciduria [CISMeF Querying Strategy]
MeSH term(s) associated for indexing
- Orotidine-5'-Phosphate decarboxylase [MeSH Descriptor]
- orotate phosphoribosyltransferase [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Hereditary orotic aciduria [ORDO Disease]
Record concept(s)
- Oroticaciduria 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary orotic aciduria type 1 [ICD-11 More detail]
- Hereditary orotic aciduria, type 1 (disorder) [SNOMED CT concept]
- Orotic aciduria [OMIM Phenotype]
- hereditary orotic aciduria, type 1 [SNOMED Notion]
Validated automatic mappings to BTNT
- hereditary orotic aciduria [Disease (Nov.)]
Validated automatic mappings to NTBT
- Hereditary orotic aciduria [ICD-11 Subcategory]

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