Chondroectodermal dysplasia with night blindness syndrome   763134002

SNOMED CT code


SNOMED code763134002
nameChondroectodermal dysplasia with night blindness syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Chondroectodermal dysplasia with night blindness syndrome (disorder)
synonymsChondroectodermal dysplasia with night blindness syndrome
attributes - group3
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEctoderm structure   63206006
attributes - group1
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Pathological processPathological developmental process   308490002
attributes - group2
Associated morphologyDysplasia   25723000
Finding siteSkin structure   39937001
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group6
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group7
Finding siteNail unit structure   770802007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group5
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteTooth structure   38199008
OccurrenceCongenital   255399007
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteRetinal structure   5665001
parents
hierarchies
a selection of possible paths
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
              Chondroectodermal dysplasia with night blindness syndrome   763134002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Globe finding   246915008
        Retina finding   399858007
          Retinal disorder   29555009
            Night blindness   65194006
              Chondroectodermal dysplasia with night blindness syndrome   763134002

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