SNOMED CT Concept  138875005

Clinical finding  404684003

Deformity  417893002

Congenital deformity  276655000

Rhizomelic chondrodysplasia punctata syndrome  56692003

Rhizomelic chondrodysplasia punctata type 1   1003862001

SNOMED CT code


SNOMED code1003862001
nameRhizomelic chondrodysplasia punctata type 1
statusactive
date introduced2021-01-31
fully specified name(s)Rhizomelic chondrodysplasia punctata type 1 (disorder)
synonymsRhizomelic chondrodysplasia punctata type 1
attributes - group1
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
attributes - group2
Finding siteStructure of epiphysis   43719000
Associated morphologyDeformity   6081001
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
parentsRhizomelic chondrodysplasia punctata syndrome   56692003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Rhizomelic chondrodysplasia punctata syndrome   56692003
          Rhizomelic chondrodysplasia punctata type 1   1003862001

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