Kelley-Seegmiller syndrome

Preferred Label : Kelley-Seegmiller syndrome;

ICD-11 definition : Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout.;

ICD-11 synonym : Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT partial deficiency; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; HPRT - [hypoxanthine-guanine phosphoribosyltransferase] partial deficiency;

Details

Origin ID

1094084865;

UMLS CUI

C0268117;

Automatic exact mappings (from CISMeF team)
- Hypoxanthine-Guanine Phosphoribosyltransferase [NCIt concept]
Currated CISMeF NLP mapping
- Hyperuricemia, hprt-related [OMIM Phenotype]
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency [ORDO Disease]
- Kelley-Seegmiller syndrome [MedDRA LLT]
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [SNOMED CT concept]
- gout, HPRT-Related [MeSH Supplementary Concept]
- 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]
- Partial hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA LLT]
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [SNOMED CT concept]
- gout, HPRT-Related [MeSH concept]
- gout, HPRT-Related [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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