Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome   763404001

SNOMED CT code


SNOMED code763404001
nameIchthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder)
synonyms
  • Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome
  • Jagell, Holmgren, Hofer syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
OccurrenceCongenital   255399007
Finding siteHair structure   386045008
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyProliferative hyperkeratosis   773635001
Finding siteEntire skin   181469002
OccurrenceCongenital   255399007
attributes - group4
Has interpretationAbnormal   263654008
InterpretsKeratinization   44138005
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
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
          Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome   763404001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Rough skin   816995008
          Congenital ichthyosis of skin   13059002
            Lamellar ichthyosis   205550003
              Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome   763404001

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
              Congenital alopecia   2965006
                Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome   763404001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Rough skin   816995008
          Congenital ichthyosis of skin   13059002
            Autosomal recessive ichthyosis   402772005
              Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome   763404001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome   763404001

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