Distal trisomy 1p36   766053003

SNOMED CT code


SNOMED code766053003
nameDistal trisomy 1p36
statusactive
date introduced2018-07-31
fully specified name(s)Distal trisomy 1p36 syndrome (disorder)
synonyms
  • Distal duplication 1p36
  • Distal trisomy 1p36
  • Telomeric duplication 1p36
  • Distal trisomy 1p36 syndrome
attributes - group2
Finding siteChromosome pair 1   46507000
Pathological processPathological developmental process   308490002
Associated morphologyPartial trisomy   133849008
OccurrenceCongenital   255399007
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteShort arm of chromosome   278145009
OccurrenceCongenital   255399007
Associated morphologyPartial trisomy   133849008
parents
  • Partial trisomy of short arm of chromosome 1   726339008
  • 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
          Trisomy and partial trisomy of autosome   270521004
            Partial trisomy of chromosome 1   726338000
              Partial trisomy of short arm of chromosome 1   726339008
                Distal trisomy 1p36   766053003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Distal trisomy 1p36   766053003

ancestors
sorted most to least specific
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