SNOMED CT Concept  138875005

Clinical finding  404684003

Muscle finding  106030000

Disorder of muscle  129565002

Disorder of skeletal muscle  75047002

Congenital anomaly of skeletal muscle  89886004

Myopathy with abnormality of histochemical fiber type  240082006

Congenital myopathy with fiber type disproportion   240084007

SNOMED CT code


SNOMED code240084007
nameCongenital myopathy with fiber type disproportion
statusactive
date introduced2002-01-31
fully specified name(s)Congenital myopathy with fiber type disproportion (disorder)
synonyms
  • Congenital myopathy with fibre type disproportion
  • Congenital myopathy with fiber type disproportion
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteSkeletal muscle structure   127954009
OccurrenceCongenital   255399007
parents
  • Myopathy with abnormality of histochemical fiber type   240082006
  • Genetic disease   782964007
children
  • Congenital fiber-type disproportion myopathy due to ACTA1 mutation   1208413008
  • Congenital fiber-type disproportion myopathy due to MYH7 mutation   1209168005
  • Congenital fiber-type disproportion myopathy due to SELENON mutation   1202023003
  • Congenital fiber-type disproportion myopathy due to TPM3 mutation   1208416000
  • Congenital fiber-type disproportion myopathy due to ZAK mutation   1201964008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Myopathy with abnormality of histochemical fiber type   240082006
              Congenital myopathy with fiber type disproportion   240084007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Congenital myopathy with fiber type disproportion   240084007

ancestors
sorted most to least specific
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