Lesch-Nyhan syndrome

Preferred Label : Lesch-Nyhan syndrome;

MeSH definition : An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127);

MeSH synonym : hypoxanthine guanine phosphoribosyltransferase 1 deficiency; lesch-nyhan disease; hypoxanthine-phosphoribosyl-transferase deficiency diseases; hypoxanthine phosphoribosyl transferase deficiency disease; deficiency disease, complete hgprt; choreoathetosis self-mutilation hyperuricemia syndrome; choreoathetosis self mutilation hyperuricemia syndrome; deficiency diseases, hypoxanthine-phosphoribosyl-transferase; hypoxanthine-phosphoribosyl-transferase deficiency disease; hgprt deficiency disease, complete; complete hgprt deficiency disease; lesch nyhan disease; deficiency disease, hypoxanthine-phosphoribosyl-transferase; deficiency disease, hypoxanthine phosphoribosyl transferase; lesch nyhan syndrome; choreoathetosis Self-Mutilation syndrome; choreoathetosis self mutilation syndrome; choreoathetosis Self-Mutilation syndromes; Self-Mutilation syndrome, choreoathetosis; Self-Mutilation syndromes, choreoathetosis; syndrome, choreoathetosis Self-Mutilation; syndromes, choreoathetosis Self-Mutilation; complete Hypoxanthine-Guanine phosphoribosyltransferase deficiency; complete hypoxanthine guanine phosphoribosyltransferase deficiency; deficiency of guanine phosphoribosyltransferase; guanine phosphoribosyltransferase deficiencies; guanine phosphoribosyltransferase deficiency; phosphoribosyltransferase deficiencies, guanine; phosphoribosyltransferase deficiency, guanine; deficiency of hypoxanthine phosphoribosyltransferase; hypoxanthine phosphoribosyltransferase deficiencies; phosphoribosyltransferase deficiencies, hypoxanthine; phosphoribosyltransferase deficiency, hypoxanthine; hypoxanthine guanine phosphoribosyltransferase deficiency; hypoxanthine phosphoribosyltransferase deficiency; deficiencies, hypoxanthine phosphoribosyltransferase; deficiency, hypoxanthine phosphoribosyltransferase; juvenile gout, choreoathetosis, mental retardation syndrome; juvenile hyperuricemia syndrome; hyperuricemia syndrome, juvenile; hyperuricemia syndromes, juvenile; juvenile hyperuricemia syndromes; syndrome, juvenile hyperuricemia; syndromes, juvenile hyperuricemia; primary hyperuricemia syndrome; hyperuricemia syndrome, primary; hyperuricemia syndromes, primary; primary hyperuricemia syndromes; syndrome, primary hyperuricemia; syndromes, primary hyperuricemia; total Hypoxanthine-Guanine phosphoribosyl transferase deficiency; total hypoxanthine guanine phosphoribosyl transferase deficiency; X-Linked hyperuricemia; hyperuricemia, X-Linked; hyperuricemias, X-Linked; X linked hyperuricemia; X-Linked hyperuricemias; X-Linked primary hyperuricemia; hyperuricemia, X-Linked primary; hyperuricemias, X-Linked primary; primary hyperuricemia, X-Linked; primary hyperuricemias, X-Linked; X linked primary hyperuricemia; X-Linked primary hyperuricemias; HGPRT deficiency; deficiencies, HGPRT; deficiency, HGPRT; HGPRT deficiencies; total HPRT deficiency; deficiencies, total HPRT; deficiency, total HPRT; HPRT deficiencies, total; HPRT deficiency, total; total HPRT deficiencies; complete HPRT deficiency; complete HPRT deficiencies; deficiencies, complete HPRT; deficiency, complete HPRT; HPRT deficiencies, complete; HPRT deficiency, complete;

CISMeF synonym : Lesch-Nyhan; Lesch Nyhan; disease, lesch-nyhan; diseases, hypoxanthine-phosphoribosyl-transferase deficiency; disease, hypoxanthine-phosphoribosyl-transferase deficiency; Lesch-Nyhan's syndrome;

Wikipedia automatic translation : Lesch–Nyhan syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Lesch–Nyhan syndrome;

Details

Origin ID

D007926;

UMLS CUI

C0023374;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Deficiency of hypoxanthine phosphoribosyltransferase (disorder) [SNOMED CT concept]
- HGPRT deficiency [MedDRA LLT]
- Hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA Preferred Term]
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [PASCAL descriptor]
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [Vue CIM-11]
- Total hypoxanthine-guanine phosphoribosyl transferase deficiency [MedDRA LLT]
- hypoxanthine phosphoribosyltransferase 1 [ORDO Gene]
- hypoxanthine phosphoribosyltransferase 1 [HGNC gene]
- hypoxanthine-guanine phosphoribosyltransferase deficiency, nos [SNOMED Notion]
- x-linked hyperuricemia [SNOMED Notion]
Currated CISMeF NLP mapping
- Lesch Nyhan syndrome [Disease (Nov.)]
- Lesch-Nyhan Syndrome [NCIt concept]
- Lesch-Nyhan syndrome [PASCAL descriptor]
- Lesch-Nyhan syndrome [ICD-10 Sub-category]
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [ICD-11 Sub-sub category]
- Lesch-Nyhan syndrome [ICD-10 Sub-category (who)]
- 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]
Manual NTBT mappings (CISMeF)
- Hypoxanthine-guanine phosphoribosyltransferase deficiency [ORDO Disease]
ORDO relation(s)
- Lesch-Nyhan syndrome [ORDO Disease]
Record concept(s)
- Lesch-Nyhan syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Lesch-Nyhan syndrome, neurologic variant [MeSH Supplementary Concept]
See also
- hypoxanthine phosphoribosyltransferase [MeSH Descriptor]
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 [NCIt concept]
- Lesch-Nyhan syndrome [ORDO Disease]
- Lesch-Nyhan syndrome [ICD-10 Sub-category]
- Lesch-Nyhan syndrome [ICD-10 Sub-category (who)]
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [PASCAL descriptor]
- Lesch-Nyhan syndrome [ICD-11 Sub-sub category]
- 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]

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