Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion   783061008

SNOMED CT code


SNOMED code783061008
nameFacial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
statusactive
date introduced2019-07-31
fully specified name(s)Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)
synonyms
  • Monosomy 10p11.21p12.31
  • Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
  • 10p12p11 microdeletion syndrome
  • Deletion 10p11.21p12.31
  • Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyPartial monosomy   371169004
Finding siteChromosome pair 10   56332006
attributes - group2
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
OccurrenceCongenital   255399007
Finding siteChromosome pair 10   56332006
Associated morphologyDeletion of short arm   67285006
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome   1187247007
  • 10p partial monosomy syndrome   6002006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome   1187247007
          Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion   783061008

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 10   2893009
              Deletion of part of chromosome 10   726380001
                10p partial monosomy syndrome   6002006
                  Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion   783061008

ancestors
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