8q24.3 microdeletion syndrome   1229895008

SNOMED CT code


SNOMED code1229895008
name8q24.3 microdeletion syndrome
statusactive
date introduced2022-05-31
fully specified name(s)8q24.3 microdeletion syndrome (disorder)
synonyms
  • Verheij syndrome
  • Deletion 8q24.3
  • Monosomy 8q24.3
  • 8q24.3 microdeletion syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteChromosome pair 8   77826001
Associated morphologyPartial monosomy   371169004
attributes - group2
OccurrenceCongenital   255399007
Finding siteSkeletal system structure   113192009
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Finding siteChromosome pair 8   77826001
Associated morphologyDeletion of long arm   64329008
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Developmental delay   248290002
  • 8q partial monosomy syndrome   29379007
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital anomaly of musculoskeletal system   73573004
  • Disorder of skeletal system   88230002
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
          8q24.3 microdeletion syndrome   1229895008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              8q24.3 microdeletion syndrome   1229895008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          8q24.3 microdeletion syndrome   1229895008

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 8   48082007
              Deletion of part of chromosome 8   726378007
                8q partial monosomy syndrome   29379007
                  8q24.3 microdeletion syndrome   1229895008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          8q24.3 microdeletion syndrome   1229895008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          8q24.3 microdeletion syndrome   1229895008

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
              8q24.3 microdeletion syndrome   1229895008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Congenital anomaly of musculoskeletal system   73573004
          8q24.3 microdeletion syndrome   1229895008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          8q24.3 microdeletion syndrome   1229895008

ancestors
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