Spondylodysplastic Ehlers-Danlos syndrome   1251488008

SNOMED CT code


SNOMED code1251488008
nameSpondylodysplastic Ehlers-Danlos syndrome
statusactive
date introduced2022-09-30
fully specified name(s)Spondylodysplastic Ehlers-Danlos syndrome (disorder)
synonymsSpondylodysplastic Ehlers-Danlos syndrome
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
parentsEhlers-Danlos syndrome   398114001
children
  • B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome   1251499005
  • Ehlers-Danlos syndrome progeroid type   720861000
  • Ehlers-Danlos syndrome spondylocheirodysplastic type   773276004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Ehlers-Danlos syndrome   398114001
            Spondylodysplastic Ehlers-Danlos syndrome   1251488008

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