AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome   774068004

SNOMED CT code


SNOMED code774068004
nameAHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
statusactive
date introduced2019-01-31
fully specified name(s)AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder)
synonyms
  • AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
  • Xia Gibbs syndrome
  • AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
  • AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome
  • AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
attributes - group3
InterpretsRespiration observable   364062005
Has interpretationAbsent   2667000
attributes - group1
Associated morphologyObstruction   26036001
Finding siteAirway structure   89187006
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder by system   363137000
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Obstructive sleep apnea syndrome   78275009
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
          AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome   774068004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome   774068004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome   774068004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome   774068004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome   774068004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding related to sleep   106168000
      Sleep disorder   39898005
        Breathing-related sleep disorder   111489007
          Obstructive sleep apnea syndrome   78275009
            AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome   774068004

ancestors
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