Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome   773553003

SNOMED CT code


SNOMED code773553003
nameHypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)
synonyms
  • Shaheen syndrome
  • Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
attributes - group2
Associated morphologyHypoplasia   55199003
Finding siteEnamel structure   76993005
attributes - group4
Finding siteSweat gland structure   10410005
attributes - group3
Associated morphologyHyperkeratosis   26996000
Finding siteEntire skin of sole of foot   181566006
attributes - group5
Pathological processPathological developmental process   308490002
attributes - group1
Finding siteEntire skin of palmar area of hand   181544004
Associated morphologyHyperkeratosis   26996000
attributes - group6
InterpretsSweating   415691001
Has interpretationDecreased   1250004
attributes - group7
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group8
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
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
          Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome   773553003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome   773553003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Disorder of digestive organ   76712006
          Tooth disorder   234947003
            Disorder of hard tissues of teeth   46557008
              Enamel hypoplasia   26597004
                Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome   773553003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome   773553003

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
            Hereditary diffuse palmoplantar keratoderma   400123002
              Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome   773553003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Decline in functional status   154091000119106
        Hypohidrosis   45004005
          Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome   773553003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome   773553003

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