Adenine phosphoribosyltransferase deficiency

Preferred Label : Adenine phosphoribosyltransferase deficiency;

ICD-11 definition : Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) into urine, causing urolithiasis and crystalline nephropathy.;

ICD-11 synonym : 2,8 dihydroxyadenine urolithiasis;

Details

Origin ID

753682703;

UMLS CUI

C0268120;

Currated CISMeF NLP mapping
- Adenine Phosphoribosyltransferase Deficiency [NCIt concept]
- Adenine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Adenine phosphoribosyltransferase deficiency [MeSH concept]
- 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 [MeSH Supplementary Concept]
- adenine phosphoribosyltransferase deficiency [SNOMED Notion]
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 [OMIM Phenotype]
- Adenine phosphoribosyltransferase deficiency [MeSH concept]
- Adenine phosphoribosyltransferase deficiency [ORDO Disease]
- Deficiency of adenine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- adenine phosphoribosyl transferase deficiency [Disease (Nov.)]
- adenine phosphoribosyltransferase deficiency [DO Concept]
- adenine phosphoribosyltransferase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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