11p15.4 microduplication syndrome   770794008

SNOMED CT code


SNOMED code770794008
name11p15.4 microduplication syndrome
statusactive
date introduced2019-01-31
fully specified name(s)11p15.4 microduplication syndrome (disorder)
synonyms
  • Trisomy 11p15.4
  • 11p15.4 microduplication syndrome
attributes - group1
Finding siteShort arm of chromosome   278145009
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyPartial trisomy   133849008
attributes - group3
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteChromosome pair 11   16312006
Associated morphologyPartial trisomy   133849008
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
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Partial trisomy of chromosome 11   726350006
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
          11p15.4 microduplication syndrome   770794008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              11p15.4 microduplication syndrome   770794008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          11p15.4 microduplication syndrome   770794008

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
              11p15.4 microduplication syndrome   770794008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Trisomy and partial trisomy of autosome   270521004
            Partial trisomy of chromosome 11   726350006
              11p15.4 microduplication syndrome   770794008

ancestors
sorted most to least specific
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