Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005

SNOMED CT code


SNOMED code764942005
nameColobomatous microphthalmia, rhizomelic dysplasia syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)
synonyms
  • Colobomatous microphthalmia, rhizomelic dysplasia syndrome
  • Microphthalmia, coloboma, rhizomelic skeletal dysplasia
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure of extremity   48566001
OccurrenceCongenital   255399007
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
attributes - group3
InterpretsLimb length   164835000
Has interpretationBelow reference range   281300000
parents
  • Rhizomelic dysplasia   1263463009
  • Autosomal hereditary disorder   1899006
  • Congenital anomaly of eye   19416009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Multiple system malformation syndrome   82354003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Rhizomelic dysplasia   1263463009
              Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Colobomatous microphthalmia, rhizomelic dysplasia syndrome   764942005

ancestors
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