Cleidorhizomelic syndrome   719471002

SNOMED CT code


SNOMED code719471002
nameCleidorhizomelic syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Cleidorhizomelic syndrome (disorder)
synonyms
  • Cleidorhizomelic syndrome
  • Rhizomelic shortness with clavicular defect
  • Wallis Zieff Goldblatt syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
Finding siteBone structure of extremity   48566001
attributes - group2
InterpretsLimb length   164835000
Has interpretationBelow reference range   281300000
attributes - group4
InterpretsBody height measure   50373000
Has interpretationBelow reference range   281300000
attributes - group3
OccurrenceCongenital   255399007
Finding siteBone structure of clavicle   51299004
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Rhizomelic dysplasia   1263463009
  • Short stature disorder   237836003
  • Finding of clavicle structure   298761006
  • Congenital anomaly of body wall   363027008
  • Congenital anomaly of thorax   363035006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of bone of shoulder girdle   726116007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Cleidorhizomelic syndrome   719471002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Rhizomelic dysplasia   1263463009
              Cleidorhizomelic syndrome   719471002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Cleidorhizomelic syndrome   719471002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of shoulder region   116308004
          Finding of clavicle structure   298761006
            Cleidorhizomelic syndrome   719471002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body wall   399986003
        Congenital anomaly of body wall   363027008
          Cleidorhizomelic syndrome   719471002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of upper trunk   609623002
        Finding of region of thorax   298705000
          Disorder of thorax   118946009
            Congenital anomaly of thorax   363035006
              Cleidorhizomelic syndrome   719471002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Cleidorhizomelic syndrome   719471002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Cleidorhizomelic syndrome   719471002

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 bone of shoulder girdle   726116007
            Cleidorhizomelic syndrome   719471002

ancestors
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