Intellectual disability, seizures, macrocephaly, obesity syndrome   770750002

SNOMED CT code


SNOMED code770750002
nameIntellectual disability, seizures, macrocephaly, obesity syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
synonymsIntellectual disability, seizures, macrocephaly, obesity syndrome
attributes - group3
Finding siteSex chromosome X   72837006
Associated morphologyChromosomal morphology   107675007
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyEnlargement   442021009
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group4
Has interpretationAbove reference range   281302008
InterpretsBody weight measure   363808001
attributes - group6
InterpretsHead circumference   363812007
Has interpretationAbove reference range   281302008
attributes - group7
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group8
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group5
OccurrenceChildhood   255398004
parents
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
          Intellectual disability, seizures, macrocephaly, obesity syndrome   770750002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Anomaly of chromosome pair   362984008
            Anomaly of sex chromosome   95462004
              Anomaly of chromosome X   111312006
                Intellectual disability, seizures, macrocephaly, obesity syndrome   770750002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Macrocephaly   1145403003
          Congenital macrocephaly   1145402008
            Intellectual disability, seizures, macrocephaly, obesity syndrome   770750002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Obesity   414916001
        Childhood obesity   444862003
          Intellectual disability, seizures, macrocephaly, obesity syndrome   770750002

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
              Intellectual disability, seizures, macrocephaly, obesity syndrome   770750002

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