purine-pyrimidine metabolism, inborn errors

Preferred Label : purine-pyrimidine metabolism, inborn errors;

MeSH definition : Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.;

MeSH synonym : purine pyrimidine metabolism, inborn errors;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific purine /metab (IM) or pyrimidine /metab (IM); DF: PP METAB INBORN ERR; coordinate with specific purine /metab or pyrimidine /metab;

Details

Origin ID

D011686;

UMLS CUI

C0034139;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Other disorders of purine and pyrimidine metabolism [ICD-10 Sub-category (who)]
- Purine and pyrimidine metabolism anomalies [HRDO Sign]
CISMeF manual mappings
- Disorder of purine and pyrimidine metabolism (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 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)]
- Inborn errors of purine, pyrimidine or nucleotide metabolism [ICD-11 Category]
- Purine and pyrimidine metabolism disorders [MedDRA High Level Group Term]
- disorders of purine and pyrimidine metabolism [Disease (Nov.)]
- purine-pyrimidine metabolic disorder [DO Concept]
Manual BTNT mappings - CISMeF
- Disorder of purine metabolism [ORDO Disease]
- Disorder of pyrimidine metabolism [ORDO Disease]
ORDO relation(s)
- Disorder of purine or pyrimidine metabolism [ORDO Disease]
Record concept(s)
- Purine-Pyrimidine metabolism, inborn errors [MeSH concept]
Related MeSH Supplementary Concept(s)
- Beta-Ureidopropionase deficiency [MeSH Supplementary Concept]
- adenosine monophosphate deaminase deficiency [MeSH Supplementary Concept]
- adenylosuccinate lyase deficiency [MeSH Supplementary Concept]
- hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase [MeSH Supplementary Concept]
- methylmalonate semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
- orotic aciduria II [MeSH Supplementary Concept]
- oroticaciduria 1 [MeSH Supplementary Concept]
- phosphoribosylpyrophosphate synthetase deficiency [MeSH Supplementary Concept]
- phosphoribosylpyrophosphate synthetase superactivity [MeSH Supplementary Concept]
- pseudouridinuria and mental defect [MeSH Supplementary Concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
- thiopurine S methyltranferase deficiency [MeSH Supplementary Concept]
- xanthinuria, type II [MeSH Supplementary Concept]
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 (who)]
- 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]
- Disorders of purine and pyrimidine metabolism [ICD-10 category (who)]
- Inborn errors of purine, pyrimidine or nucleotide metabolism [ICD-11 Category]
- Purine and pyrimidine metabolism disorders [MedDRA High Level Group Term]
- disorders of purine and pyrimidine metabolism [Disease (Nov.)]
Validated automatic mappings to BTNT
- Disorders of pyrimidine metabolism [ICD-11 Subcategory]
Validated automatic mappings to NTBT
- disorders of purine and pyrimidine metabolism [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients