Craniofaciofrontodigital syndrome   763320005

SNOMED CT code


SNOMED code763320005
nameCraniofaciofrontodigital syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Craniofaciofrontodigital syndrome (disorder)
synonyms
  • Craniofaciofrontodigital syndrome
  • Cantu craniofaciofrontodigital syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure of cranium   89546000
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group4
Finding siteConnective tissue structure   21793004
attributes - group5
InterpretsHeight / growth measure   271603002
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
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
          Craniofaciofrontodigital syndrome   763320005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Dysostosis of bone of skull   128219005
              Craniofaciofrontodigital syndrome   763320005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Craniofaciofrontodigital syndrome   763320005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Craniofaciofrontodigital syndrome   763320005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Craniofaciofrontodigital syndrome   763320005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic bone disease   50279003
          Craniofaciofrontodigital syndrome   763320005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Metabolic disease of collagen   73873008
          Cutis laxa   58588007
            Craniofaciofrontodigital syndrome   763320005

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
              Craniofaciofrontodigital syndrome   763320005

ancestors
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