X-linked intellectual disability with cerebellar hypoplasia syndrome   719136005

SNOMED CT code


SNOMED code719136005
nameX-linked intellectual disability with cerebellar hypoplasia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)
synonyms
  • X-linked intellectual disability with cerebellar hypoplasia syndrome
  • OPHN1 syndrome
  • Oligophrenin-1 syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyHypoplasia   55199003
OccurrenceCongenital   255399007
Finding siteCerebellar structure   113305005
attributes - group2
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • X-linked dominant hereditary disease   1162984000
  • Congenital cerebellar hypoplasia   16026008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
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
          X-linked intellectual disability with cerebellar hypoplasia syndrome   719136005

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
                X-linked intellectual disability with cerebellar hypoplasia syndrome   719136005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Cerebellar disorder   223176004
            Dysgenesis of the cerebellum   253171007
              Congenital cerebellar hypoplasia   16026008
                X-linked intellectual disability with cerebellar hypoplasia syndrome   719136005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          X-linked intellectual disability with cerebellar hypoplasia syndrome   719136005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            X-linked intellectual disability with cerebellar hypoplasia syndrome   719136005

ancestors
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