Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT code


SNOMED code722209002
nameSpastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)
synonyms
  • Fitzsimmons McLachlan Gilbert syndrome
  • Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome
attributes - group5
Pathological processPathological developmental process   308490002
attributes - group3
Associated morphologyHyperkeratosis   26996000
Finding siteSkin structure of sole of foot   37136002
attributes - group2
Associated morphologyHyperkeratosis   26996000
Finding siteSkin structure of palmar area of hand   70887009
attributes - group6
InterpretsKeratinization   44138005
Has interpretationAbnormal   263654008
attributes - group1
Finding siteFoot structure   56459004
Associated morphologyClaw-shaped deformity   2559001
attributes - group7
Finding siteAnkle region structure   344001
Associated morphologyDeformity   6081001
attributes - group8
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group11
InterpretsMovement   255324009
attributes - group10
InterpretsMovement observable   363847004
Has interpretationAbsent   2667000
attributes - group9
Finding siteRight lower extremity structure   62175007
attributes - group13
Finding siteLeft lower extremity structure   32153003
attributes - group12
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group4
Finding siteCentral nervous system structure   21483005
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Spastic syndrome   386781001
          Spastic paraplegia   192967009
            Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Hereditary palmoplantar keratoderma   239066003
            Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Disorder of keratinization   277905003
          Inherited disorder of keratinization   254214009
            Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of joint region   785875003
        Disorder of ankle   128138008
          Talipes   398309008
            Talipes cavus   36755004
              Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Rough skin of hands   829993001
            Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome   722209002

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