Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001

SNOMED CT code


SNOMED code719162001
nameRadioulnar synostosis with microcephaly and scoliosis syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
synonyms
  • Radioulnar synostosis with microcephaly and scoliosis syndrome
  • Giuffre Tsukahara syndrome
  • Tsukahara syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
Finding siteHead structure   69536005
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital abnormal fusion   37764001
Finding siteBone structure of radius   62413002
attributes - group3
Associated morphologyCongenital abnormal fusion   37764001
Finding siteBone structure of ulna   23416004
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group5
InterpretsHeight / growth measure   271603002
Has interpretationBelow reference range   281300000
attributes - group6
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
attributes - group7
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group8
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group4
Associated morphologyLateral abnormal curvature   31739005
Finding siteMusculoskeletal structure of spine   289959001
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
          Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of bone of upper limb   298756009
          Failure of differentiation of bones of forearm   253917003
            Congenital radioulnar synostosis   1268409009
              Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Scoliosis deformity of spine   298382003
          Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Radioulnar synostosis with microcephaly and scoliosis syndrome   719162001

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