Hypomyelination neuropathy arthrogryposis syndrome   766931003

SNOMED CT code


SNOMED code766931003
nameHypomyelination neuropathy arthrogryposis syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Hypomyelination neuropathy arthrogryposis syndrome (disorder)
synonymsHypomyelination neuropathy arthrogryposis syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteStructure of joint region   785818007
OccurrenceCongenital   255399007
Associated morphologyContracture   57048009
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteNerve structure   3057000
Associated morphologyHypomyelination   111007000
OccurrenceCongenital   255399007
attributes - group3
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
parents
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
            Distal arthrogryposis syndrome   24269006
              Hypomyelination neuropathy arthrogryposis syndrome   766931003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of movement   298325004
      Motor dysfunction   52559000
        Akinesia   33994004
          Hypomyelination neuropathy arthrogryposis syndrome   766931003

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
              Hypomyelination neuropathy arthrogryposis syndrome   766931003

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
              Hypomyelination neuropathy arthrogryposis syndrome   766931003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Arthrogryposis   111246005
          Amyoplasia congenita disruptive sequence   77016009
            Hypomyelination neuropathy arthrogryposis syndrome   766931003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hypomyelination neuropathy arthrogryposis syndrome   766931003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital anomaly of nervous system   88425004
            Hypomyelination neuropathy arthrogryposis syndrome   766931003

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