Severe X-linked myotubular myopathy   46804001

SNOMED CT code


SNOMED code46804001
nameSevere X-linked myotubular myopathy
statusactive
date introduced2002-01-31
fully specified name(s)Severe X-linked myotubular myopathy (disorder)
synonyms
  • Severe X-linked myotubular myopathy
  • X-linked centronuclear myopathy
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
parents
  • X-linked recessive hereditary disease   1162976004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Myotubular myopathy   82077006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Severe X-linked myotubular myopathy   46804001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Severe X-linked myotubular myopathy   46804001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Severe X-linked myotubular myopathy   46804001

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
            Myotubular myopathy   82077006
              Severe X-linked myotubular myopathy   46804001

ancestors
sorted most to least specific
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