Alopecia, contracture, dwarfism, intellectual disability syndrome   720979002

SNOMED CT code


SNOMED code720979002
nameAlopecia, contracture, dwarfism, intellectual disability syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)
synonyms
  • Alopecia, contracture, dwarfism, intellectual disability syndrome
  • ACD (alopecia, contracture, dwarfism) syndrome
  • ACD (alopecia, contracture, dwarfism) mental retardation syndrome
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
attributes - group4
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
Associated morphologyMorphologically abnormal structure   49755003
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Autosomal recessive hereditary disorder   85995004
  • 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
          Alopecia, contracture, dwarfism, intellectual disability syndrome   720979002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Alopecia, contracture, dwarfism, intellectual disability syndrome   720979002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Alopecia, contracture, dwarfism, intellectual disability syndrome   720979002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Alopecia, contracture, dwarfism, intellectual disability syndrome   720979002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Alopecia, contracture, dwarfism, intellectual disability syndrome   720979002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Alopecia, contracture, dwarfism, intellectual disability syndrome   720979002

ancestors
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