21q22.11q22.12 microdeletion syndrome   787171006

SNOMED CT code


SNOMED code787171006
name21q22.11q22.12 microdeletion syndrome
statusactive
date introduced2019-07-31
fully specified name(s)21q22.11q22.12 microdeletion syndrome (disorder)
synonyms
  • 21q22.11q22.12 microdeletion syndrome
  • Monosomy 21q22.11q22.12
attributes - group2
OccurrenceCongenital   255399007
Finding siteChromosome pair 21   43009003
Pathological processPathological developmental process   308490002
Associated morphologyDeletion of long arm   64329008
attributes - group3
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyPartial monosomy   371169004
Finding siteChromosome pair 21   43009003
Pathological processPathological developmental process   308490002
attributes - group4
InterpretsHeight / growth measure   271603002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • 21q partial monosomy syndrome   15841002
  • Short stature disorder   237836003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Genetic disease   782964007
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
          21q22.11q22.12 microdeletion syndrome   787171006

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
                21q partial monosomy syndrome   15841002
                  21q22.11q22.12 microdeletion syndrome   787171006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          21q22.11q22.12 microdeletion syndrome   787171006

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
              21q22.11q22.12 microdeletion syndrome   787171006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        21q22.11q22.12 microdeletion syndrome   787171006

ancestors
sorted most to least specific
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