Chondroectodermal dysplasia   62501005

SNOMED CT code


SNOMED code62501005
nameChondroectodermal dysplasia
statusactive
date introduced2002-01-31
fully specified name(s)Chondroectodermal dysplasia (disorder)
synonyms
  • Chondroectodermal dysplasia
  • Ellis-van Creveld syndrome
  • EVC - Ellis-van Creveld syndrome
attributes - group2
Associated morphologyDysplasia   25723000
Finding siteSkin structure   39937001
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group3
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Pathological processPathological developmental process   308490002
attributes - group4
Finding siteTooth structure   38199008
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group6
Associated morphologyMorphologically abnormal structure   49755003
Finding siteHair structure   386045008
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group5
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteNail unit structure   770802007
attributes - group1
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
parents
childrenChondroectodermal dysplasia with night blindness syndrome   763134002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Osteochondrodysplasia syndrome   105985007
                Chondroectodermal dysplasia   62501005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Chondroectodermal dysplasia   62501005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Ectodermal dysplasia with hair-tooth defects   239027006
              Ectodermal dysplasia with hair-tooth-nail defects   239015008
                Chondroectodermal dysplasia   62501005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Chondroectodermal dysplasia   62501005

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
            Chondroectodermal dysplasia   62501005

ancestors
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