Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

SNOMED CT code


SNOMED code734017008
nameEctodermal dysplasia, intellectual disability, central nervous system malformation syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)
synonymsEctodermal dysplasia, intellectual disability, central nervous system malformation syndrome
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteCentral nervous system structure   21483005
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • X-linked recessive hereditary disease   1162976004
  • Congenital anomaly of central nervous system   128124001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of nervous system   363235000
  • Multiple system malformation syndrome   82354003
  • Ectodermal dysplasia   8654005
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
          Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

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
                Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

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
            Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome   734017008

ancestors
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