Maternal uniparental disomy of chromosome 21   782691006

SNOMED CT code


SNOMED code782691006
nameMaternal uniparental disomy of chromosome 21
statusactive
date introduced2019-07-31
fully specified name(s)Maternal uniparental disomy of chromosome 21 (disorder)
synonyms
  • Maternal uniparental disomy of chromosome 21
  • UPD(21)mat - maternal uniparental disomy of chromosome 21
attributes - group1
Finding siteChromosome pair 21   43009003
Associated morphologyAlteration of chromosome structure   41669009
OccurrenceCongenital   255399007
parents
  • Anomaly of chromosome pair 21   70156005
  • Uniparental disomy of maternal origin   726401004
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 21   70156005
              Maternal uniparental disomy of chromosome 21   782691006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Uniparental disomy   726400003
              Uniparental disomy of maternal origin   726401004
                Maternal uniparental disomy of chromosome 21   782691006

ancestors
sorted most to least specific
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