Microphthalmia with ankyloblepharon and intellectual disability syndrome   717222003

SNOMED CT code


SNOMED code717222003
nameMicrophthalmia with ankyloblepharon and intellectual disability syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)
synonyms
  • Microphthalmia with ankyloblepharon and intellectual disability syndrome
  • Syndromic microphthalmia type 4
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
Finding siteEntire eye proper   1290040004
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAdhesion   42685002
OccurrenceCongenital   255399007
Finding siteStructure of free margin of eyelid   77024004
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
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
          Microphthalmia with ankyloblepharon and intellectual disability syndrome   717222003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Microphthalmia with ankyloblepharon and intellectual disability syndrome   717222003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Eyelid finding   246812007
        Lid margin finding   246845007
          Ankyloblepharon   193953008
            Congenital ankyloblepharon   253213006
              Microphthalmia with ankyloblepharon and intellectual disability syndrome   717222003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microphthalmia with ankyloblepharon and intellectual disability syndrome   717222003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Microphthalmia with ankyloblepharon and intellectual disability syndrome   717222003

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
              Microphthalmia with ankyloblepharon and intellectual disability syndrome   717222003

ancestors
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