Autosomal dominant Charcot-Marie-Tooth disease type 2   1156835005

SNOMED CT code


SNOMED code1156835005
nameAutosomal dominant Charcot-Marie-Tooth disease type 2
statusactive
date introduced2021-07-31
fully specified name(s)Autosomal dominant Charcot-Marie-Tooth disease type 2 (disorder)
synonymsAutosomal dominant Charcot-Marie-Tooth disease type 2
attributes - group1
Finding siteNerve structure   3057000
Associated morphologyAtrophy   13331008
attributes - group2
Finding sitePeripheral nervous system structure   3058005
parents
  • Autosomal dominant hereditary disorder   11164009
  • Charcot-Marie-Tooth disease, type II   398187000
children
  • Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation   1172684002
  • Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation   764730007
  • Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation   1187566006
  • 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 2DD   1187620007
  • 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 dominant Charcot-Marie-Tooth disease type 2V   1187618009
  • Autosomal dominant Charcot-Marie-Tooth disease type 2W   1172634009
  • Autosomal dominant Charcot-Marie-Tooth disease type 2Y   1187565005
  • Autosomal dominant Charcot-Marie-Tooth disease type 2Z   1187564009
  • MME-related autosomal dominant Charcot Marie Tooth disease type 2   1172585006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Autosomal dominant Charcot-Marie-Tooth disease type 2   1156835005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Charcot-Marie-Tooth disease, type II   398187000
          Autosomal dominant Charcot-Marie-Tooth disease type 2   1156835005

ancestors
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