Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome   723998001

SNOMED CT code


SNOMED code723998001
nameShort stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)
synonyms
  • Robin sequence with cleft mandible and limb anomalies syndrome
  • Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
  • Richieri Costa Pereira syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure of mandible   91609006
Associated morphologyDevelopmental failure of fusion   371520008
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
parents
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Robin sequence   4602007
  • Autosomal recessive hereditary disorder   85995004
  • Cleft mandible   92822004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome   723998001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome   723998001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome   723998001

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
                Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome   723998001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome   723998001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Orofacial cleft   449790007
            Cleft mandible   92822004
              Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome   723998001

ancestors
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