WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome   1187247007

SNOMED CT code


SNOMED code1187247007
nameWAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
statusactive
date introduced2021-11-30
fully specified name(s)WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder)
synonyms
  • WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
  • WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
  • WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
  • WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Developmental delay   248290002
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Genetic disease   782964007
childrenFacial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion   783061008
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
          WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome   1187247007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome   1187247007

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
              WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome   1187247007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome   1187247007

ancestors
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