Lesch-Nyhan syndrome   10406007

SNOMED CT code


SNOMED code10406007
nameLesch-Nyhan syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Lesch-Nyhan syndrome (disorder)
synonyms
  • Lesch-Nyhan syndrome
  • Complete HGPRT deficiency
  • Choreoathetosis self-mutilation syndrome
  • Total HGPRT deficiency
  • HGPRT deficiency
  • HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
  • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
  • Lesch-Nyhan disease
  • Hypoxanthine-guanine phosphoribosyltransferase deficiency
  • X-linked hyperuricemia
  • X-linked hyperuricaemia
parents
  • X-linked recessive hereditary disease   1162976004
  • Deficiency of hypoxanthine phosphoribosyltransferase   124275001
  • Hyperuricemia   35885006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Lesch-Nyhan syndrome   10406007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Enzymopathy   78548001
          Specific enzyme deficiency   129456006
            Deficiency of transferase   124237001
              Deficiency of hypoxanthine phosphoribosyltransferase   124275001
                Lesch-Nyhan syndrome   10406007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of purine and pyrimidine metabolism   238006008
          Disorder of purine metabolism   32612005
            Hyperuricemia   35885006
              Lesch-Nyhan syndrome   10406007

ancestors
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