Inborn errors of purine, pyrimidine or nucleotide metabolism

ICD-11 code : 5C55;

Preferred Label : Inborn errors of purine, pyrimidine or nucleotide metabolism;

ICD-11 synonym : inherited disorders of purine, pyrimidine or nucleotide metabolism; congenital disorders of purine, pyrimidine or nucleotide metabolism; disorders of purine and pyrimidine metabolism; Disorders of purine, pyrimidine or nucleotide metabolism;

ICD-11 "other" category code : 5C55.Y;

ICD-11 "unspecified" category code : 5C55.Z;

Details

Origin ID

575400186;

UMLS CUI

C0034139;

Currated CISMeF NLP mapping
- Disorder of purine and pyrimidine metabolism (disorder) [SNOMED CT concept]
- Disorder of purine and pyrimidine metabolism, unspecified [ICD-10 Sub-category (who)]
- Disorder of purine or pyrimidine metabolism [ORDO Disease]
- Disorders of purine and pyrimidine metabolism [ICD-10 category]
- Disorders of purine and pyrimidine metabolism [ICD-10 category (who)]
- Purine and pyrimidine metabolism disorders [MedDRA High Level Group Term]
- Purine-Pyrimidine metabolism, inborn errors [MeSH concept]
- disorders of purine and pyrimidine metabolism [Disease (Nov.)]
- purine-pyrimidine metabolic disorder [DO Concept]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
ICD-10 Mapping
- Disorders of purine and pyrimidine metabolism [ICD-10 category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of purine and pyrimidine metabolism (disorder) [SNOMED CT concept]
- Disorder of purine and pyrimidine metabolism, unspecified [ICD-10 Sub-category]
- Disorder of purine or pyrimidine metabolism [ORDO Disease]
- Disorders of purine and pyrimidine metabolism [ICD-10 category]
- Purine and pyrimidine metabolism disorders [MedDRA High Level Group Term]
- Purine-Pyrimidine metabolism, inborn errors [MeSH concept]
- disorders of purine and pyrimidine metabolism [Disease (Nov.)]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
Validated automatic mappings to BTNT
- Disorder of pyrimidine metabolism [ORDO Disease]
- Disorder of pyrimidine metabolism (disorder) [SNOMED CT concept]
- Disorders of pyrimidine metabolism [MedDRA High Level Term]
- disorder of pyrimidine metabolism, nos [SNOMED Notion]
- pyrimidine metabolic disorder [DO Concept]

Keyword's position in hierarchy(ies) :

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