Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome   1236844002

SNOMED CT code


SNOMED code1236844002
nameEarly-onset myopathy, areflexia, respiratory distress, dysphagia syndrome
statusactive
date introduced2022-08-31
fully specified name(s)Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
synonyms
  • EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome
  • Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Muscle weakness   26544005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Autosomal recessive hereditary disorder   85995004
  • Congenital anomaly of skeletal muscle   89886004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Finding of power of skeletal muscle   271708004
        Muscle weakness   26544005
          Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome   1236844002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome   1236844002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome   1236844002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome   1236844002

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
            Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome   1236844002

ancestors
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