Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

SNOMED CT code


SNOMED code776204008
nameColobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)
synonymsColobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
OccurrenceCongenital   255399007
Finding siteEntire eye proper   1290040004
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
Finding siteEye structure   81745001
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteGonadal endocrine structure   304041004
Associated morphologyMorphologically abnormal structure   49755003
attributes - group4
InterpretsBody weight measure   363808001
Has interpretationAbove reference range   281302008
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Central obesity   248311001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Reproductive system hereditary disorder   363290007
  • Hereditary disorder of the visual system   363343008
  • Congenital anomaly of endocrine gonad   371118004
  • Colobomatous microphthalmia   715771008
  • Multiple system malformation syndrome   82354003
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
          Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Obesity   414916001
        Obesity by fat distribution pattern   414920002
          Central obesity   248311001
            Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital anomaly of endocrine gland   4184009
            Congenital anomaly of endocrine gonad   371118004
              Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

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
            Microphthalmos   61142002
              Colobomatous microphthalmia   715771008
                Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008

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, obesity, hypogenitalism, intellectual disability syndrome   776204008

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