Lamb Shaffer syndrome   1251453008

SNOMED CT code


SNOMED code1251453008
nameLamb Shaffer syndrome
statusactive
date introduced2022-09-30
fully specified name(s)Lamb Shaffer syndrome (disorder)
synonyms
  • SOX5 haploinsufficiency syndrome
  • Lamb Shaffer syndrome
attributes - group2
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group1
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Intellectual disability   110359009
  • Global developmental delay   224958001
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Genetic disease   782964007
children
  • 12p12.1 microdeletion syndrome   778007004
  • Developmental and speech delay due to SOX5 deficiency   771472009
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
          Lamb Shaffer syndrome   1251453008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Lamb Shaffer syndrome   1251453008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Lamb Shaffer syndrome   1251453008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Lamb Shaffer syndrome   1251453008

ancestors
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