Congenital myopathy with reduced type 2 muscle fibers   1255274002

SNOMED CT code


SNOMED code1255274002
nameCongenital myopathy with reduced type 2 muscle fibers
statusactive
date introduced2022-10-31
fully specified name(s)Congenital myopathy with reduced type 2 muscle fibers (disorder)
synonyms
  • Congenital myopathy with reduced type II muscle fibres
  • Congenital myopathy with type 2 muscle fibre atrophy
  • Congenital myopathy with type II fiber atrophy
  • Congenital myopathy with reduced type II muscle fibers
  • Congenital myopathy with fast-twitch fiber atrophy
  • Congenital myopathy with fast-twitch fibre atrophy
  • Congenital myopathy with reduced type 2 muscle fibers
  • Congenital myopathy with type II fibre atrophy
  • Congenital myopathy with reduced type 2 muscle fibres
  • Congenital myopathy with type 2 muscle fiber atrophy
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Myopathy with abnormality of histochemical fiber type   240082006
  • 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
    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 reduced type 2 muscle fibers   1255274002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Congenital myopathy with reduced type 2 muscle fibers   1255274002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Congenital myopathy with reduced type 2 muscle fibers   1255274002

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 myopathy with reduced type 2 muscle fibers   1255274002

ancestors
sorted most to least specific
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