5p13 microduplication syndrome   770793002

SNOMED CT code


SNOMED code770793002
name5p13 microduplication syndrome
statusactive
date introduced2019-01-31
fully specified name(s)5p13 microduplication syndrome (disorder)
synonyms
  • Trisomy 5p13
  • 5p13 microduplication syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyPartial trisomy   133849008
Finding siteChromosome pair 5   12399004
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
Finding siteShort arm of chromosome   278145009
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • 5p partial trisomy   74008005
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
          5p13 microduplication syndrome   770793002

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
              5p13 microduplication syndrome   770793002

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 5   726343007
              5p partial trisomy   74008005
                5p13 microduplication syndrome   770793002

ancestors
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