Fatal infantile hypertonic myofibrillar myopathy   782883004

SNOMED CT code


SNOMED code782883004
nameFatal infantile hypertonic myofibrillar myopathy
statusactive
date introduced2019-07-31
fully specified name(s)Fatal infantile hypertonic myofibrillar myopathy (disorder)
synonymsFatal infantile hypertonic myofibrillar myopathy
attributes - group1
Finding siteSkeletal muscle structure   127954009
OccurrenceInfancy   3658006
parents
  • Hereditary disorder of musculoskeletal system   363212003
  • Myofibrillar myopathy   699269005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Fatal infantile hypertonic myofibrillar myopathy   782883004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Myofibrillar myopathy   699269005
            Fatal infantile hypertonic myofibrillar myopathy   782883004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Fatal infantile hypertonic myofibrillar myopathy   782883004

ancestors
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