Hypoxanthine-guanine phosphoribosyltransferase deficiency

Preferred Label : Hypoxanthine-guanine phosphoribosyltransferase deficiency;

ICD-11 definition : Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. Two forms of the disease have been described: LNS, the most severe form, with a complete enzyme deficiency, and Lesch-Nyhan variants with partial HPRT deficiency (Kelley-Seegmiller syndrome).;

ICD-11 synonym : Hypoxanthine guanine phosphoribosyltransferase deficiency;

ICD-11 inclusion : total HGPRT - [hypoxanthine-guanine phosphoribosyltransferase] deficiency; complete hypoxanthine-guanine phosphoribosyltransferase deficiency; deficiency of hypoxanthine phosphoribosyltransferase; deficiency of guanine phosphoribosyltransferase; HPRT - [ hypoxanthine-guanine phosphoribosyltransferase] complete deficiency;

Details

Origin ID

1293396861;

UMLS CUI

C0023374;

Automatic exact mappings (from CISMeF team)
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [MeSH Descriptor]
- Lesch-Nyhan syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Deficiency of hypoxanthine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [PASCAL descriptor]
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of hypoxanthine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- HGPRT deficiency [MedDRA LLT]
- Hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [ORDO Disease]
- Lesch Nyhan syndrome [Disease (Nov.)]
- Lesch-Nyhan Syndrome [NCIt concept]
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [ICD-10 Sub-category]
- Lesch-Nyhan syndrome [MedDRA LLT]
- Lesch-Nyhan syndrome [MeSH Descriptor]
- Lesch-Nyhan syndrome [MeSH concept]
- Lesch-Nyhan syndrome [ORDO Disease]
- Lesch-Nyhan syndrome [PASCAL descriptor]
- Lesch-Nyhan syndrome (disorder) [SNOMED CT concept]
- Lesch-nyhan syndrome [OMIM Phenotype]
- Total hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA LLT]
- hypoxanthine-guanine phosphoribosyltransferase deficiency, nos [SNOMED Notion]
- lesch-nyhan syndrome [SNOMED Notion]
- x-linked hyperuricemia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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