Congenital hypoplasia of ulna and intellectual disability syndrome   719842006

SNOMED CT code


SNOMED code719842006
nameCongenital hypoplasia of ulna and intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)
synonyms
  • Congenital hypoplasia of ulna and intellectual disability syndrome
  • Ulna hypoplasia with intellectual disability syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyHypoplasia   55199003
Finding siteBone structure of ulna   23416004
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
Finding siteBone structure of upper limb   371195002
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group5
InterpretsArm length   249748003
Has interpretationBelow reference range   281300000
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysostosis   109420003
              Congenital hypoplasia of ulna and intellectual disability syndrome   719842006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Congenital hypoplasia of ulna and intellectual disability syndrome   719842006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Mesomelic dysplasia   205473008
              Congenital hypoplasia of ulna and intellectual disability syndrome   719842006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Congenital hypoplasia of ulna and intellectual disability syndrome   719842006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Congenital hypoplasia of ulna and intellectual disability syndrome   719842006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital hypoplasia of ulna and intellectual disability syndrome   719842006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of bone of upper limb   298756009
          Congenital anomaly of ulna   123560000
            Congenital hypoplasia of ulna   93300007
              Congenital hypoplasia of ulna and intellectual disability syndrome   719842006

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