Disorders of purine and pyrimidine metabolism

Preferred Label : Disorders of purine and pyrimidine metabolism;

ICD-10 exclusion note : calculus of kidney (N20.0); xeroderma pigmentosum (Q82.1); Cockayne's syndrome (Q87.1); gout (M1A.-, M10.-); combined immunodeficiency disorders (D81.-); orotaciduric anemia (D53.0); Bloom's syndrome (Q82.8); Fanconi's anemia (D61.09); progeria (E34.8); Ataxia-telangiectasia (Q87.1); Werner's syndrome (E34.8);

Source : OMS;

Date de début : 01/01/1997;

Do not code with : true;

Details

Origin ID

E79;

UMLS CUI

C0034139;

Automatic exact mappings (from CISMeF team)
- Purine and pyrimidine metabolism anomalies [HRDO Sign]
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]
- Disorder of pyrimidine metabolism [ORDO Disease]
- Disorder of pyrimidine metabolism (disorder) [SNOMED CT concept]
- Disorders of purine and pyrimidine metabolism [ICD-10 category (who)]
- Disorders of pyrimidine metabolism [MedDRA High Level Term]
- Inborn errors of purine, pyrimidine or nucleotide metabolism [ICD-11 Category]
- Purine and pyrimidine metabolism disorders [MedDRA High Level Group Term]
- Purine-Pyrimidine metabolism, inborn errors [MeSH concept]
- disorder of pyrimidine metabolism, nos [SNOMED Notion]
- disorders of purine and pyrimidine metabolism [Disease (Nov.)]
- purine-pyrimidine metabolic disorder [DO Concept]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
- pyrimidine metabolic disorder [DO Concept]
Excluded by
- Other disorders of amino-acid metabolism [ICD-10 category]
ICD-10 exclusion(s)
- Calculus of kidney [ICD-10 Sub-category]
- Combined immunodeficiencies [ICD-10 category]
- Gout [ICD-10 category]
- Protein deficiency anemia [ICD-10 Sub-category]
- Xeroderma pigmentosum [ICD-10 Sub-category]
Manual NTBT mappings (CISMeF)
- Disorder of purine metabolism [ORDO Disease]
- Disorder of pyrimidine metabolism [ORDO Disease]
Metaterm(s)
- genetics [CISMeF Metaterm]
- metabolism [CISMeF Metaterm]
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 or pyrimidine metabolism [ORDO Disease]
- Inborn errors of purine, pyrimidine or nucleotide metabolism [ICD-11 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
- Disorders of purine metabolism [ICD-11 Subcategory]
- Disorders of pyrimidine metabolism [ICD-11 Subcategory]
- Xanthinuria [ICD-11 Sub-sub category]
- disorders of pyrimidine metabolism [Error of metabolism category]

Keyword's position in hierarchy(ies) :

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