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

SNOMED CT code


SNOMED code82077006
nameMyotubular myopathy
statusactive
date introduced2002-01-31
fully specified name(s)Myotubular myopathy (disorder)
synonyms
  • Myotubular myopathy
  • Centronuclear myopathy
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
parentsCongenital anomaly of skeletal muscle   89886004
children
  • Autosomal dominant centronuclear myopathy   716696006
  • Autosomal recessive centronuclear myopathy   240081004
  • Myotubular myopathy with type I atrophy   15080006
  • Severe X-linked myotubular myopathy   46804001
  • X-linked myotubular myopathy, abnormal genitalia syndrome   1255278004
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
            Myotubular myopathy   82077006

ancestors
sorted most to least specific
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