Lesch-Nyhan Syndrome

Preferred Label : Lesch-Nyhan Syndrome;

NCIt definition : An X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips).;

Details

Origin ID

C61255;

UMLS CUI

C0023374;

Automatic exact mappings (from CISMeF team)
- hypoxanthine phosphoribosyltransferase 1 [ORDO Gene]
- hypoxanthine phosphoribosyltransferase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Lesch Nyhan syndrome [Disease (Nov.)]
- Lesch-Nyhan syndrome [ICD-10 Sub-category]
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [PASCAL descriptor]
- Lesch-Nyhan syndrome [ICD-11 Sub-sub category]
- Lesch-Nyhan syndrome [ICD-10 Sub-category (who)]
- Lesch-Nyhan syndrome [MeSH Descriptor]
- Lesch-Nyhan syndrome [MeSH concept]
- Lesch-Nyhan syndrome [ORDO Disease]
- Lesch-Nyhan syndrome [MedDRA LLT]
- Lesch-Nyhan syndrome (disorder) [SNOMED CT concept]
- Lesch-nyhan syndrome [OMIM Phenotype]
- lesch-nyhan syndrome [SNOMED Notion]
DO Cross reference
- Lesch-Nyhan syndrome [DO Concept]
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]
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [Vue CIM-11]
- Lesch Nyhan syndrome [Disease (Nov.)]
- Lesch-Nyhan syndrome [ORDO Disease]
- Lesch-Nyhan syndrome [ICD-10 Sub-category]
- Lesch-Nyhan syndrome [PASCAL descriptor]
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [ICD-11 Sub-sub category]
- Lesch-Nyhan syndrome [ICD-10 Sub-category (who)]
- Lesch-Nyhan syndrome [MeSH concept]
- Lesch-Nyhan syndrome [MeSH Descriptor]
- Lesch-Nyhan syndrome [MedDRA LLT]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HPRT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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