Microphthalmia, microtia, fetal akinesia syndrome   1230344000

SNOMED CT code


SNOMED code1230344000
nameMicrophthalmia, microtia, fetal akinesia syndrome
statusactive
date introduced2022-06-30
fully specified name(s)Microphthalmia, microtia, fetal akinesia syndrome (disorder)
synonyms
  • Microphthalmia, microtia, foetal akinesia syndrome
  • Microphthalmia, microtia, fetal akinesia syndrome
  • Thomas Jewett Raines syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteStructure of truncus arteriosus of fetus   58140002
Pathological processPathological developmental process   308490002
Associated morphologyPersistent truncus arteriosus   787779000
attributes - group2
OccurrenceCongenital   255399007
Finding siteExternal ear structure   28347008
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
Finding siteEntire right eye proper   1290043002
attributes - group4
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
Finding siteEntire left eye proper   1290041000
attributes - group5
OccurrenceCongenital   255399007
Finding siteHeart structure   80891009
Associated morphologyAbnormal communication   783804002
Pathological processPathological developmental process   308490002
attributes - group7
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group6
OccurrenceCongenital   255399007
Finding siteStructure of joint region   785818007
Associated morphologyContracture   57048009
Pathological processPathological developmental process   308490002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of eye   371405004
          Disorder of right eye proper   1290033000
            Microphthalmos of right eye   15987191000119108
              Bilateral microphthalmos   15987151000119103
                Microphthalmia, microtia, fetal akinesia syndrome   1230344000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Arthrogryposis   111246005
          Arthrogryposis multiplex congenita   205402004
            Microphthalmia, microtia, fetal akinesia syndrome   1230344000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Motor dysfunction   52559000
        Akinesia   33994004
          Microphthalmia, microtia, fetal akinesia syndrome   1230344000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Congenital malformation of ear   275259005
            Congenital abnormality of external ear   282038006
              Microtia   35045004
                Microphthalmia, microtia, fetal akinesia syndrome   1230344000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Persistence of primitive artery   234122004
          Common arterial trunk (truncus arteriosus)   61959006
            Microphthalmia, microtia, fetal akinesia syndrome   1230344000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Microphthalmia, microtia, fetal akinesia syndrome   1230344000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Microphthalmia, microtia, fetal akinesia syndrome   1230344000

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