Hair defect with photosensitivity and intellectual disability syndrome   721007005

SNOMED CT code


SNOMED code721007005
nameHair defect with photosensitivity and intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Hair defect with photosensitivity and intellectual disability syndrome (disorder)
synonyms
  • Calderón González Cantu syndrome
  • Hair defect with photosensitivity and intellectual disability syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group2
Finding siteSkin structure   39937001
Causative agentLight   56242006
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Disorders of skin induced by physical agents   373591006
  • Congenital anomaly of hair   65033000
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
  • Photosensitivity   90128006
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
          Hair defect with photosensitivity and intellectual disability syndrome   721007005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hair defect with photosensitivity and intellectual disability syndrome   721007005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Hair defect with photosensitivity and intellectual disability syndrome   721007005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Effect of exposure to physical force   419026008
      Disorders of skin induced by physical agents   373591006
        Hair defect with photosensitivity and intellectual disability syndrome   721007005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Congenital anomaly of hair   65033000
              Hair defect with photosensitivity and intellectual disability syndrome   721007005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Hair defect with photosensitivity and intellectual disability syndrome   721007005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hair defect with photosensitivity and intellectual disability syndrome   721007005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Effect of exposure to physical force   419026008
      Photosensitivity   90128006
        Hair defect with photosensitivity and intellectual disability syndrome   721007005

ancestors
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