Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009

SNOMED CT code


SNOMED code1269224009
nameCraniosynostosis, microretrognathia, severe intellectual disability syndrome
statusactive
date introduced2023-04-30
fully specified name(s)Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder)
synonymsCraniosynostosis, microretrognathia, severe intellectual disability syndrome
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
OccurrenceCongenital   255399007
Finding siteJoint structure of suture of skull   51863000
Associated morphologyCongenital premature fusion   67798003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteBone structure of jaw   392081006
Associated morphologyRecession   76822009
Pathological processPathological developmental process   308490002
parents
  • Congenital retrognathism   109515000
  • Autosomal dominant hereditary disorder   11164009
  • Congenital anomaly of bone and joint   237513002
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Severe mental retardation (I.Q. 20-34)   40700009
  • Craniosynostosis syndrome   57219006
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Recession of bone   298358008
          Congenital retrognathism   109515000
            Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009

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
              Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Severe mental retardation (I.Q. 20-34)   40700009
            Craniosynostosis, microretrognathia, severe intellectual disability syndrome   1269224009

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, microretrognathia, severe intellectual disability syndrome   1269224009

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, microretrognathia, severe intellectual disability syndrome   1269224009

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