Charcot-Marie-Tooth disease, type II   398187000

SNOMED CT code


SNOMED code398187000
nameCharcot-Marie-Tooth disease, type II
statusactive
date introduced2003-07-31
fully specified name(s)Charcot-Marie-Tooth disease, type II (disorder)
synonyms
  • Charcot-Marie-Tooth disease, type II
  • Inherited neuronal peroneal muscular atrophy
  • Hereditary motor and sensory neuropathy type II
  • Peroneal muscular atrophy of neuronal type
  • Charcot Marie Tooth disease, type 2
attributes - group2
Finding sitePeripheral nervous system structure   3058005
attributes - group1
Associated morphologyAtrophy   13331008
Finding siteNerve structure   3057000
parents
children
  • Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation   764730007
  • Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons   782742006
  • Autosomal dominant Charcot-Marie-Tooth disease type 2A1   717016001
  • Autosomal dominant Charcot-Marie-Tooth disease type 2A2   764850002
  • Autosomal dominant Charcot-Marie-Tooth disease type 2B   717008005
  • Autosomal dominant Charcot-Marie-Tooth disease type 2C   717010007
  • Autosomal dominant Charcot-Marie-Tooth disease type 2D   717011006
  • Autosomal dominant Charcot-Marie-Tooth disease type 2E   717012004
  • Autosomal dominant Charcot-Marie-Tooth disease type 2F   719510006
  • Autosomal dominant Charcot-Marie-Tooth disease type 2G   719511005
  • Autosomal dominant Charcot-Marie-Tooth disease type 2I   717013009
  • Autosomal dominant Charcot-Marie-Tooth disease type 2J   717014003
  • Autosomal dominant Charcot-Marie-Tooth disease type 2K   719512003
  • Autosomal dominant Charcot-Marie-Tooth disease type 2L   719513008
  • Autosomal dominant Charcot-Marie-Tooth disease type 2M   719514002
  • Autosomal dominant Charcot-Marie-Tooth disease type 2N   719515001
  • Autosomal dominant Charcot-Marie-Tooth disease type 2O   782829002
  • Autosomal dominant Charcot-Marie-Tooth disease type 2Q   773393001
  • Autosomal dominant Charcot-Marie-Tooth disease type 2U   765046002
  • Autosomal recessive Charcot-Marie-Tooth disease with hoarseness   725047007
  • Charcot-Marie-Tooth disease type 2B1   725048002
  • Charcot-Marie-Tooth disease type 2B2   719981005
  • Charcot-Marie-Tooth disease type 2B5   771307003
  • Charcot-Marie-Tooth disease type 2H   720637005
  • Charcot-Marie-Tooth disease type 2P   782826009
  • Charcot-Marie-Tooth disease type 2R   774147002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Charcot-Marie-Tooth disease, type II   398187000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of body system   362965005
          Disorder of nervous system   118940003
            Neuropathy   386033004
              Charcot-Marie-Tooth disease, type II   398187000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of body system   362965005
          Disorder of nervous system   118940003
            Hereditary disorder of nervous system   363235000
              Hereditary peripheral neuropathy   65017003
                Hereditary motor and sensory neuropathy   398100001
                  Charcot-Marie-Tooth disease, type II   398187000

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