Cerebro-facio-thoracic dysplasia   720635002

SNOMED CT code


SNOMED code720635002
nameCerebro-facio-thoracic dysplasia
statusactive
date introduced2017-01-31
fully specified name(s)Cerebro-facio-thoracic dysplasia (disorder)
synonyms
  • Cerebro-facio-thoracic dysplasia
  • Pascual Castroviejo syndrome type 1
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
attributes - group2
Finding siteBone structure of vertebra   420345000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure of rib   113197003
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
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
            Dysostosis   109420003
              Cerebro-facio-thoracic dysplasia   720635002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Cerebro-facio-thoracic dysplasia   720635002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body wall   399986003
        Congenital anomaly of body wall   363027008
          Congenital anomaly of rib   123572006
            Cerebro-facio-thoracic dysplasia   720635002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Finding of vertebra   298385001
          Lesion of vertebra   13211000119109
            Cerebro-facio-thoracic dysplasia   720635002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cerebro-facio-thoracic dysplasia   720635002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Cerebro-facio-thoracic dysplasia   720635002

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
              Cerebro-facio-thoracic dysplasia   720635002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Vertebral column finding   119414006
        Disorder of vertebral column   699699005
          Cerebro-facio-thoracic dysplasia   720635002

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
              Cerebro-facio-thoracic dysplasia   720635002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Cerebro-facio-thoracic dysplasia   720635002

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