SNOMED CT Concept  138875005

Clinical finding  404684003

Mental state, behavior and/or psychosocial function finding  384821006

Behavior finding  844005

Intellectual disability  110359009

DYRK1A-related intellectual disability syndrome   1179301003

SNOMED CT code


SNOMED code1179301003
nameDYRK1A-related intellectual disability syndrome
statusactive
date introduced2021-10-31
fully specified name(s)Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
synonyms
  • DYRK1A-related intellectual disability syndrome
  • Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome
  • DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome
  • DYRK1A 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
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Genetic disease   782964007
childrenDYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion   783619003
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
          DYRK1A-related intellectual disability syndrome   1179301003

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
              DYRK1A-related intellectual disability syndrome   1179301003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        DYRK1A-related intellectual disability syndrome   1179301003

ancestors
sorted most to least specific
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