Congenital myotonia, autosomal dominant form   57938005

SNOMED CT code


SNOMED code57938005
nameCongenital myotonia, autosomal dominant form
statusactive
date introduced2002-01-31
fully specified name(s)Congenital myotonia, autosomal dominant form (disorder)
synonyms
  • Myotonia congenita - autosomal dominant form
  • Thomsen's disease
  • Thomsen myotonia congenita
  • Congenital myotonia, autosomal dominant form
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
parents
  • Autosomal dominant hereditary disorder   11164009
  • Hereditary disorder of musculoskeletal system   363212003
  • Myotonia congenita   726051002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Congenital myotonia, autosomal dominant form   57938005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Congenital myotonia, autosomal dominant form   57938005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Myotonia congenita   726051002
          Congenital myotonia, autosomal dominant form   57938005

ancestors
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