Microspherophakia with metaphyseal dysplasia syndrome   724140002

SNOMED CT code


SNOMED code724140002
nameMicrospherophakia with metaphyseal dysplasia syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Microspherophakia with metaphyseal dysplasia syndrome (disorder)
synonyms
  • Microspherophakia with metaphyseal dysplasia syndrome
  • Verloes Van Maldergem de Marneffe syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteLens clear   78076003
OccurrenceCongenital   255399007
Associated morphologyCongenital abnormal roundness   38022006
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group4
InterpretsHeight / growth measure   271603002
parents
  • Skeletal dysplasia   105986008
  • Autosomal dominant hereditary disorder   11164009
  • Short stature disorder   237836003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Microspherophakia   416671000
  • Congenital anomaly of skeletal bone   8447006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Microspherophakia with metaphyseal dysplasia syndrome   724140002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Microspherophakia with metaphyseal dysplasia syndrome   724140002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Microspherophakia with metaphyseal dysplasia syndrome   724140002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microspherophakia with metaphyseal dysplasia syndrome   724140002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Microspherophakia with metaphyseal dysplasia syndrome   724140002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Microspherophakia with metaphyseal dysplasia syndrome   724140002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of eye   371405004
          Disorder of anterior segment of eye   128535002
            Disorder of lens   10810001
              Congenital anomaly of lens   128353007
                Microphakia   35272001
                  Microspherophakia   416671000
                    Microspherophakia with metaphyseal dysplasia syndrome   724140002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Microspherophakia with metaphyseal dysplasia syndrome   724140002

ancestors
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