Congenital fiber-type disproportion myopathy due to ZAK mutation   1201964008

SNOMED CT code


SNOMED code1201964008
nameCongenital fiber-type disproportion myopathy due to ZAK mutation
statusactive
date introduced2022-02-28
fully specified name(s)Congenital fiber-type disproportion myopathy due to ZAK mutation (disorder)
synonyms
  • Congenital fiber-type disproportion myopathy due to ZAK mutation
  • Congenital fibre-type disproportion myopathy due to ZAK mutation
  • CNM6 - centronuclear myopathy 6
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Congenital myopathy with fiber type disproportion   240084007
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Congenital myopathy with fiber type disproportion   240084007
          Congenital fiber-type disproportion myopathy due to ZAK mutation   1201964008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Congenital fiber-type disproportion myopathy due to ZAK mutation   1201964008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Congenital fiber-type disproportion myopathy due to ZAK mutation   1201964008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital fiber-type disproportion myopathy due to ZAK mutation   1201964008

ancestors
sorted most to least specific
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