Familial scaphocephaly syndrome McGillivray type   725030006

SNOMED CT code


SNOMED code725030006
nameFamilial scaphocephaly syndrome McGillivray type
statusactive
date introduced2017-07-31
fully specified name(s)Familial scaphocephaly syndrome McGillivray type (disorder)
synonyms
  • Familial scaphocephaly syndrome McGillivray type
  • Scaphocephaly, macrocephaly, maxillary retrusion, intellectual disability syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteStructure of sagittal suture of skull   62169003
Associated morphologyCongenital premature fusion   67798003
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAbnormal shape   399984000
OccurrenceCongenital   255399007
Finding siteBone structure of cranium   89546000
parents
  • Interparietal craniosynostosis   109418001
  • Autosomal dominant hereditary disorder   11164009
  • Congenital anomaly of bone and joint   237513002
  • Congenital abnormality of skull shape   254023004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Cranial suture finding   248387005
          Imperfect fusion of skull   23939000
            Craniosynostosis syndrome   57219006
              Simple craniosynostosis   255581000119100
                Interparietal craniosynostosis   109418001
                  Familial scaphocephaly syndrome McGillivray type   725030006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Familial scaphocephaly syndrome McGillivray type   725030006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital anomaly of bone and joint   237513002
              Familial scaphocephaly syndrome McGillivray type   725030006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Congenital abnormality of skull shape   254023004
              Familial scaphocephaly syndrome McGillivray type   725030006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Familial scaphocephaly syndrome McGillivray type   725030006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Familial scaphocephaly syndrome McGillivray type   725030006

ancestors
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