Ehlers-Danlos syndrome spondylocheirodysplastic type   773276004

SNOMED CT code


SNOMED code773276004
nameEhlers-Danlos syndrome spondylocheirodysplastic type
statusactive
date introduced2019-01-31
fully specified name(s)Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder)
synonyms
  • Ehlers-Danlos syndrome spondylocheirodysplastic type
  • SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
  • Spondylocheirodysplastic Ehlers-Danlos syndrome
attributes - group2
Associated morphologyDysplasia   25723000
Finding siteSkin structure   39937001
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
attributes - group3
Finding siteConnective tissue structure   21793004
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
parents
  • Spondylodysplastic Ehlers-Danlos syndrome   1251488008
  • Autosomal recessive hereditary disorder   85995004
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
              Ehlers-Danlos syndrome spondylocheirodysplastic type   773276004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Ehlers-Danlos syndrome spondylocheirodysplastic type   773276004

ancestors
sorted most to least specific
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