SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

Congenital myopathy with fiber type disproportion  240084007

Congenital fiber-type disproportion myopathy due to SELENON mutation   1202023003

SNOMED CT code


SNOMED code1202023003
nameCongenital fiber-type disproportion myopathy due to SELENON mutation
statusactive
date introduced2022-02-28
fully specified name(s)Congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder)
synonyms
  • Congenital fiber-type disproportion myopathy due to SELENON mutation
  • Congenital fibre-type disproportion myopathy due to SELENON mutation
  • Congenital fibre-type disproportion myopathy due to selenoprotein N mutation
  • Congenital fiber-type disproportion myopathy due to selenoprotein N mutation
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parentsCongenital myopathy with fiber type disproportion   240084007
children
  • Autosomal dominant congenital fiber-type disproportion myopathy due to SELENON mutation   1202024009
  • Autosomal recessive congenital fiber-type disproportion myopathy due to SELENON mutation   1202025005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Congenital myopathy with fiber type disproportion   240084007
          Congenital fiber-type disproportion myopathy due to SELENON mutation   1202023003

ancestors
sorted most to least specific
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