SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

DYRK1A-related intellectual disability syndrome  1179301003

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion   783619003

SNOMED CT code


SNOMED code783619003
nameDYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
statusactive
date introduced2019-07-31
fully specified name(s)Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)
synonyms
  • DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
  • Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
  • 21q22.13q22.2 microdeletion syndrome
  • Monosomy 21q22.13q22.2
attributes - group2
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
Finding siteChromosome pair 21   43009003
Pathological processPathological developmental process   308490002
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyPartial monosomy   371169004
Finding siteLong arm of chromosome   312242007
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • DYRK1A-related intellectual disability syndrome   1179301003
  • Deletion of part of chromosome 21   726398002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        DYRK1A-related intellectual disability syndrome   1179301003
          DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion   783619003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of chromosome pair 21   70156005
              Deletion of part of chromosome 21   726398002
                DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion   783619003

ancestors
sorted most to least specific
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