Craniosynostosis and intracranial calcification syndrome   720816004

SNOMED CT code


SNOMED code720816004
nameCraniosynostosis and intracranial calcification syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Craniosynostosis and intracranial calcification syndrome (disorder)
synonyms
  • Craniosynostosis and intracranial calcification syndrome
  • Longman Tolmie syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteJoint structure of suture of skull   51863000
OccurrenceCongenital   255399007
Associated morphologyCongenital premature fusion   67798003
attributes - group4
Pathological processPathological developmental process   308490002
Finding siteBone structure of cranium   89546000
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyPathologic calcification   18115005
Finding siteBasal ganglion structure   32610002
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Disorder of skull   118945008
  • Calcification of basal ganglia   16818591000119108
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Craniosynostosis syndrome   57219006
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of cerebrum   702628006
  • Autosomal recessive hereditary disorder   85995004
  • Congenital degeneration of nervous system   95477007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            Craniosynostosis and intracranial calcification syndrome   720816004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Craniosynostosis and intracranial calcification syndrome   720816004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Lesion of brain   301766008
        Cerebral calcification   17944005
          Calcification of basal ganglia   16818591000119108
            Craniosynostosis and intracranial calcification syndrome   720816004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Craniosynostosis and intracranial calcification syndrome   720816004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Craniosynostosis and intracranial calcification syndrome   720816004

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
              Craniosynostosis and intracranial calcification syndrome   720816004

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
              Craniosynostosis and intracranial calcification syndrome   720816004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Congenital anomaly of brain   57148006
            Congenital anomaly of cerebrum   702628006
              Craniosynostosis and intracranial calcification syndrome   720816004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Craniosynostosis and intracranial calcification syndrome   720816004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Congenital degeneration of nervous system   95477007
          Craniosynostosis and intracranial calcification syndrome   720816004

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