Adenine Phosphoribosyltransferase Deficiency

Preferred Label : Adenine Phosphoribosyltransferase Deficiency;

NCIt definition : An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones.;

Details

Origin ID

C121564;

UMLS CUI

C0268120;

Currated CISMeF NLP mapping
- Adenine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Adenine phosphoribosyltransferase deficiency [OMIM Phenotype]
- Adenine phosphoribosyltransferase deficiency [MeSH concept]
- Adenine phosphoribosyltransferase deficiency [ORDO Disease]
- Adenine phosphoribosyltransferase deficiency [ICD-11 More detail]
- 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]
DO Cross reference
- adenine phosphoribosyltransferase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Adenine phosphoribosyltransferase deficiency [ORDO Disease]
- Adenine phosphoribosyltransferase deficiency [OMIM Phenotype]
- Adenine phosphoribosyltransferase deficiency [MeSH concept]
- 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]
- adenine phosphoribosyltransferase deficiency [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- APRT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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