Craniofrontonasal dysplasia   715421009

SNOMED CT code


SNOMED code715421009
nameCraniofrontonasal dysplasia
statusactive
date introduced2016-07-31
fully specified name(s)Craniofrontonasal dysplasia (disorder)
synonyms
  • Craniofrontonasal dysplasia
  • Craniofrontonasal syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group2
OccurrenceCongenital   255399007
Finding siteBone structure of cranium   89546000
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
parents
  • Skeletal dysplasia   105986008
  • X-linked dominant hereditary disease   1162984000
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of skull   51655004
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Lesion of face   767811005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Craniofrontonasal dysplasia   715421009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked dominant hereditary disease   1162984000
                Craniofrontonasal dysplasia   715421009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Craniofrontonasal dysplasia   715421009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Craniofrontonasal dysplasia   715421009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Craniofrontonasal dysplasia   715421009

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
              Craniofrontonasal dysplasia   715421009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Lesion of face   767811005
            Craniofrontonasal dysplasia   715421009

ancestors
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