17q24.2 microdeletion syndrome   1229873009

SNOMED CT code


SNOMED code1229873009
name17q24.2 microdeletion syndrome
statusactive
date introduced2022-05-31
fully specified name(s)17q24.2 microdeletion syndrome (disorder)
synonyms17q24.2 microdeletion syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteLong arm of chromosome   312242007
Associated morphologyPartial monosomy   371169004
attributes - group2
OccurrenceCongenital   255399007
Finding siteChromosome pair 17   45201007
Associated morphologyPartial monosomy   371169004
attributes - group3
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
parents
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
          17q24.2 microdeletion syndrome   1229873009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          17q24.2 microdeletion syndrome   1229873009

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 17   32107005
              Deletion of part of chromosome 17   726389000
                Deletion of part of long arm of chromosome 17   733300002
                  17q24.2 microdeletion syndrome   1229873009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        17q24.2 microdeletion syndrome   1229873009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              17q24.2 microdeletion syndrome   1229873009

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