Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT code


SNOMED code1216940001
nameJoint contractures, developmental delay, Pierre Robin syndrome
statusactive
date introduced2022-04-30
fully specified name(s)Joint contractures, developmental delay, Pierre Robin syndrome (disorder)
synonyms
  • 5q23 microdeletion syndrome
  • Joint contractures, developmental delay, Pierre Robin syndrome
attributes - group5
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group1
OccurrenceCongenital   255399007
Finding siteChromosome pair 5   12399004
Associated morphologyPartial monosomy   371169004
attributes - group2
OccurrenceCongenital   255399007
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial monosomy   371169004
attributes - group3
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Associated morphologyContracture   57048009
Pathological processPathological developmental process   308490002
Finding siteJoint structure   39352004
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Joint deformity   250087009
        Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Arthropathy   399269003
          Lesion of joint   298149009
            Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Robin sequence   4602007
                Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of chromosome pair 5   57361003
              Deletion of part of chromosome 5   726372008
                Deletion of part of long arm of chromosome 5   726373003
                  Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Contracture of joint   7890003
        Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Arthropathy   399269003
          Congenital anomaly of joint   95463009
            Joint contractures, developmental delay, Pierre Robin syndrome   1216940001

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