adenine phosphoribosyltransferase deficiency

Preferred Label : adenine phosphoribosyltransferase deficiency;

CISMeF synonym : 2,8-Dihydroxyadenine urolithiasis;

MeSH synonym : APRT deficiency;

Related MeSH term : DHA Crystalline Nephropathy; 2,8-Dihydroxyadeninuria; Urolithiasis, 2,8-Dihydroxyadenine;

Details

Origin ID

C538228;

UMLS CUI

C0268120;

Currated CISMeF NLP mapping
- Adenine Phosphoribosyltransferase Deficiency [NCIt concept]
- Adenine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Adenine phosphoribosyltransferase deficiency [ICD-11 More detail]
- Adenine phosphoribosyltransferase deficiency [OMIM Phenotype]
- Adenine phosphoribosyltransferase deficiency [ORDO Disease]
- Adenine phosphoribosyltransferase deficiency (disorder) [Inactive SNOMED CT concept]
- Deficiency of adenine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- adenine phosphoribosyl transferase deficiency [Disease (Nov.)]
- adenine phosphoribosyltransferase deficiency [DO Concept]
- adenine phosphoribosyltransferase deficiency [SNOMED Notion]
DO Cross reference
- adenine phosphoribosyltransferase deficiency [DO Concept]
MeSH term(s) associated for indexing
- adenine phosphoribosyltransferase [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
- urolithiasis [MeSH Descriptor]
Record concept(s)
- 2,8-Dihydroxyadenine urolithiasis [MeSH concept]
- Adenine phosphoribosyltransferase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenine Phosphoribosyltransferase Deficiency [NCIt concept]
- Adenine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Adenine phosphoribosyltransferase deficiency [ORDO Disease]
- Adenine phosphoribosyltransferase deficiency [OMIM Phenotype]
- Adenine phosphoribosyltransferase deficiency [ICD-11 More detail]
- Deficiency of adenine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- adenine phosphoribosyl transferase deficiency [Disease (Nov.)]
- adenine phosphoribosyltransferase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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