Cleft palate with short stature and vertebral anomaly syndrome   719466009

SNOMED CT code


SNOMED code719466009
nameCleft palate with short stature and vertebral anomaly syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Cleft palate with short stature and vertebral anomaly syndrome (disorder)
synonyms
  • Cleft palate with short stature and vertebral anomaly syndrome
  • Mathieu De Broca Bony syndrome
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
Finding sitePalatal structure   72914001
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteStructure of vertebral column   421060004
OccurrenceCongenital   255399007
attributes - group5
InterpretsHeight / growth measure   271603002
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Short stature disorder   237836003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Disorder of vertebral column   699699005
  • Congenital anomaly of musculoskeletal system   73573004
  • Congenital anomaly of spine   74877002
  • Cleft palate   87979003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Cleft palate with short stature and vertebral anomaly syndrome   719466009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Cleft palate with short stature and vertebral anomaly syndrome   719466009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Cleft palate with short stature and vertebral anomaly syndrome   719466009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cleft palate with short stature and vertebral anomaly syndrome   719466009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Cleft palate with short stature and vertebral anomaly syndrome   719466009

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
              Cleft palate with short stature and vertebral anomaly syndrome   719466009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Vertebral column finding   119414006
        Disorder of vertebral column   699699005
          Cleft palate with short stature and vertebral anomaly syndrome   719466009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Congenital anomaly of musculoskeletal system   73573004
          Cleft palate with short stature and vertebral anomaly syndrome   719466009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of back   414252009
      Finding of spinal region   298379008
        Disorder of spinal region   410730009
          Congenital anomaly of vertebral region of back   699943005
            Congenital anomaly of spine   74877002
              Cleft palate with short stature and vertebral anomaly syndrome   719466009

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 palate   87979003
              Cleft palate with short stature and vertebral anomaly syndrome   719466009

ancestors
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