Ehlers-Danlos syndrome   398114001

SNOMED CT code


SNOMED code398114001
nameEhlers-Danlos syndrome
statusactive
date introduced2003-07-31
fully specified name(s)Ehlers-Danlos syndrome (disorder)
synonyms
  • Ehlers-Danlos syndrome
  • Cutis hyperelastica dermatorrhexis
  • Dystrophia mesodermalis congenita
  • India rubber skin
  • Dermatorrhexis with dermatochalasis AND arthrochalasis
  • Hereditary collagen dysplasia
  • Meekeren-Ehlers-Danlos syndrome
  • Cutis elastica
  • Cutis hyperelastica
  • Danlos disease
  • Fibrodysplasia elastica generalisata
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteSkin structure   39937001
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteConnective tissue structure   21793004
OccurrenceCongenital   255399007
parents
  • Skeletal dysplasia   105986008
  • Congenital anomaly of skin   199879009
  • Musculoskeletal and connective tissue disorder   312225001
  • Congenital connective tissue disorder   363039000
  • Connective tissue hereditary disorder   363045008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Metabolic bone disease   50279003
  • Metabolic disease of collagen   73873008
  • Congenital anomaly of skeletal bone   8447006
  • Skin lesion   95324001
children
  • Brittle cornea syndrome   719096006
  • Classical-like Ehlers-Danlos syndrome type 1   778022009
  • Classical-like Ehlers-Danlos syndrome type 2   1255121003
  • Dermatosparaxis Ehlers-Danlos syndrome   1237225007
  • Ehlers-Danlos syndrome cardiac valvular type   720858001
  • Ehlers-Danlos syndrome classic type   715318006
  • Ehlers-Danlos syndrome kyphoscoliotic type   718211004
  • Ehlers-Danlos syndrome musculocontractural type   720860004
  • Ehlers-Danlos syndrome with periventricular heterotopia   720857006  removed: 2020-01-31
  • Ehlers-Danlos syndrome, dysfibronectinemic   83586000
  • Ehlers-Danlos syndrome, procollagen proteinase deficient   55711009
  • Ehlers-Danlos syndrome, procollagen proteinase resistant   4170004  removed: 2023-07-31
  • Ehlers-Danlos syndrome, type 8   50869007
  • Hypermobile Ehlers-Danlos syndrome   30652003
  • Myopathic Ehlers-Danlos syndrome   1255116001
  • Spondylodysplastic Ehlers-Danlos syndrome   1251488008
  • Vascular Ehlers-Danlos syndrome   17025000
  • X-linked Ehlers-Danlos syndrome   67202007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Ehlers-Danlos syndrome   398114001

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

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Congenital connective tissue disorder   363039000
          Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Connective tissue hereditary disorder   363045008
          Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic bone disease   50279003
          Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Metabolic disease of collagen   73873008
          Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Ehlers-Danlos syndrome   398114001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Soft tissue lesion   239953001
          Skin lesion   95324001
            Ehlers-Danlos syndrome   398114001

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