Congenital myasthenic syndrome   230672006

SNOMED CT code


SNOMED code230672006
nameCongenital myasthenic syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Congenital myasthenic syndrome (disorder)
synonyms
  • Congenital myasthenia
  • Congenital myasthenic syndrome
  • Congenital myasthenia syndrome
attributes - group1
Finding siteNeuromuscular junction   31627007
Pathological processAutoimmune process   263680009
OccurrenceCongenital   255399007
attributes - group2
Finding siteSkeletal muscle structure   127954009
attributes - group3
Pathological processHypersensitivity process   472963003
parents
children
  • Acetylcholine resynthesis deficiency   230671004
  • Congenital end-plate acetylcholine receptor deficiency   230673001
  • Congenital end-plate acetylcholinesterase deficiency   230677000
  • Familial infantile myasthenia   230670003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Hereditary disorder of immune system   363138005
          Genetically determined myasthenia   230669004
            Congenital myasthenic syndrome   230672006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital myasthenic syndrome   230672006

ancestors
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