1q41q42 microdeletion syndrome   716515000

SNOMED CT code


SNOMED code716515000
name1q41q42 microdeletion syndrome
statusactive
date introduced2016-07-31
fully specified name(s)1q41q42 microdeletion syndrome (disorder)
synonyms
  • 1q41q42 microdeletion syndrome
  • Monosomy 1q41q42
  • 1q41-q42 microdeletion syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteLong arm of chromosome   312242007
OccurrenceCongenital   255399007
Associated morphologyPartial monosomy   371169004
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
Finding siteChromosome pair 1   46507000
parents
  • 1q partial monosomy   30361005
  • Multiple system malformation syndrome   82354003
hierarchies
a selection of possible paths
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 1   74769007
              Deletion of part of chromosome 1   726365007
                1q partial monosomy   30361005
                  1q41q42 microdeletion syndrome   716515000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              1q41q42 microdeletion syndrome   716515000

ancestors
sorted most to least specific
cpt crosswalks

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