Myopathic Ehlers-Danlos syndrome   1255116001

SNOMED CT code


SNOMED code1255116001
nameMyopathic Ehlers-Danlos syndrome
statusactive
date introduced2022-10-31
fully specified name(s)Myopathic Ehlers-Danlos syndrome (disorder)
synonyms
  • Myopathic EDS (Ehlers-Danlos syndrome)
  • Myopathic Ehlers-Danlos syndrome
  • Ehlers-Danlos myopathy overlap syndrome
attributes - group6
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteConnective tissue structure   21793004
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group5
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
Finding siteStructure of joint region   785818007
Associated morphologyContracture   57048009
parents
  • Autosomal hereditary disorder   1899006
  • Contracture of multiple joints   202264009
  • Ehlers-Danlos syndrome   398114001
  • Congenital anomaly of skeletal muscle   89886004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Myopathic Ehlers-Danlos syndrome   1255116001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Contracture of joint   7890003
        Contracture of multiple joints   202264009
          Myopathic Ehlers-Danlos syndrome   1255116001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Ehlers-Danlos syndrome   398114001
            Myopathic Ehlers-Danlos syndrome   1255116001

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
            Myopathic Ehlers-Danlos syndrome   1255116001

ancestors
sorted most to least specific
cpt crosswalks

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