1p21.3 microdeletion syndrome   719600006

SNOMED CT code


SNOMED code719600006
name1p21.3 microdeletion syndrome
statusactive
date introduced2017-01-31
fully specified name(s)1p21.3 microdeletion syndrome (disorder)
synonyms
  • 1p21.3 microdeletion syndrome
  • Monosomy 1p21.3
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteShort arm of chromosome   278145009
OccurrenceCongenital   255399007
Associated morphologyPartial monosomy   371169004
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyPartial monosomy   371169004
OccurrenceCongenital   255399007
Finding siteChromosome pair 1   46507000
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
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
          1p21.3 microdeletion syndrome   719600006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          1p21.3 microdeletion syndrome   719600006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Developmental mental disorder   129104009
          Disorder of psychological development   192562009
            Pervasive developmental disorder   35919005
              1p21.3 microdeletion syndrome   719600006

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
                1p partial monosomy   36369001
                  1p21.3 microdeletion syndrome   719600006

ancestors
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