Tetrasomy 12p syndrome   9527009

SNOMED CT code


SNOMED code9527009
nameTetrasomy 12p syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Tetrasomy 12p syndrome (disorder)
synonyms
  • Killian-Teschler-Nicola syndrome
  • Pallister mosaic syndrome
  • Pallister-Killian syndrome
  • Isochromosome 12p syndrome
  • Tetrasomy 12p syndrome
attributes - group1
Associated morphologyTetrasomy   29996004
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteChromosome pair 12   17897000
attributes - group2
OccurrenceCongenital   255399007
Finding siteShort arm of chromosome   278145009
Pathological processPathological developmental process   308490002
Associated morphologyTetrasomy   29996004
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Anomaly of chromosome pair 12   37535007
  • Multiple system malformation syndrome   82354003
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
          Tetrasomy 12p syndrome   9527009

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 12   37535007
              Tetrasomy 12p syndrome   9527009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Tetrasomy 12p syndrome   9527009

ancestors
sorted most to least specific
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