Skeletal dysplasia with intellectual disability syndrome   722478008

SNOMED CT code


SNOMED code722478008
nameSkeletal dysplasia with intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Skeletal dysplasia with intellectual disability syndrome (disorder)
synonyms
  • Skeletal dysplasia with intellectual disability syndrome
  • Christian syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
attributes - group2
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Skeletal dysplasia with intellectual disability syndrome   722478008

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 recessive hereditary disease   1162976004
                Skeletal dysplasia with intellectual disability syndrome   722478008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Spondylodysplastic group   278708009
              Skeletal dysplasia with intellectual disability syndrome   722478008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Skeletal dysplasia with intellectual disability syndrome   722478008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Skeletal dysplasia with intellectual disability syndrome   722478008

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