Congenital multi-minicore disease with external ophthalmoplegia   1259560001

SNOMED CT code


SNOMED code1259560001
nameCongenital multi-minicore disease with external ophthalmoplegia
statusactive
date introduced2023-01-31
fully specified name(s)Congenital multi-minicore disease with external ophthalmoplegia (disorder)
synonymsCongenital multi-minicore disease with external ophthalmoplegia
attributes - group4
InterpretsMovement   255324009
attributes - group2
Finding siteStructure of extraocular muscle   67833000
attributes - group5
Finding siteNervous system structure   25087005
attributes - group3
InterpretsMovement observable   363847004
Has interpretationAbsent   2667000
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Orbit finding   246912006
        Disorder of orbit proper   371436007
          Disorder of extraocular muscle   128603005
            External ophthalmoplegia   19373007
              Congenital multi-minicore disease with external ophthalmoplegia   1259560001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Multi-core congenital myopathy   55133004
              Congenital multi-minicore disease with external ophthalmoplegia   1259560001

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