Acrofrontofacionasal dysostosis type 2   721835008

SNOMED CT code


SNOMED code721835008
nameAcrofrontofacionasal dysostosis type 2
statusactive
date introduced2017-01-31
fully specified name(s)Acrofrontofacionasal dysostosis type 2 (disorder)
synonyms
  • Acro-fronto-facio-nasal dysostosis type 2
  • Acrofrontofacionasal dysostosis type 2
  • Naguib Richieri Costa syndrome
  • Hypertelorism, hypospadias, polysyndactyly syndrome
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteUrogenital structure   21514008
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteDigit structure   82680008
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteFace structure   89545001
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of cranium   89546000
Associated morphologyDysplasia   25723000
parents
  • Dysostosis of bone of skull   128219005
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Genitourinary congenital anomalies   287085006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of digit   403855001
  • Lesion of face   767811005
  • Autosomal recessive hereditary disorder   85995004
  • Congenital dysplasia of limb   88631000119105
hierarchies
a selection of possible paths
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
              Acrofrontofacionasal dysostosis type 2   721835008

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
            Acrofrontofacionasal dysostosis type 2   721835008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            Acrofrontofacionasal dysostosis type 2   721835008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Acrofrontofacionasal dysostosis type 2   721835008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Acrofrontofacionasal dysostosis type 2   721835008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Acrofrontofacionasal dysostosis type 2   721835008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Lesion of face   767811005
            Acrofrontofacionasal dysostosis type 2   721835008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Acrofrontofacionasal dysostosis type 2   721835008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Acrofrontofacionasal dysostosis type 2   721835008

ancestors
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