gout, HPRT-Related

Preferred Label : gout, HPRT-Related;

MeSH note : mutation in HPRT; complete deficiency Lesch-Nyhan Syndrome;

MeSH synonym : HPRT1 deficiency, partial; HPRT deficiency, partial; hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial; Kelley-Seegmiller syndrome;

Details

Origin ID

C562583;

UMLS CUI

C0268117;

Currated CISMeF NLP mapping
- Hyperuricemia, hprt-related [OMIM Phenotype]
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency [ORDO Disease]
- Kelley-Seegmiller syndrome [ICD-11 More detail]
- Kelley-Seegmiller syndrome [MedDRA LLT]
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- gout [MeSH Descriptor]
- hypoxanthine phosphoribosyltransferase [MeSH Descriptor]
Record concept(s)
- gout, HPRT-Related [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperuricemia, hprt-related [OMIM Phenotype]
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency [ORDO Disease]
- Kelley-Seegmiller syndrome [MedDRA LLT]
- Kelley-Seegmiller syndrome [ICD-11 More detail]
- Partial hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA LLT]
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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