Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome   763350002

SNOMED CT code


SNOMED code763350002
nameIntellectual disability, obesity, brain malformation, facial dysmorphism syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome (disorder)
synonyms
  • Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
  • Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteBrain structure   12738006
OccurrenceCongenital   255399007
attributes - group3
Has interpretationAbove reference range   281302008
InterpretsBody weight measure   363808001
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Obesity   414916001
  • Congenital anomaly of brain   57148006
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
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, obesity, brain malformation, facial dysmorphism syndrome   763350002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome   763350002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome   763350002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Obesity   414916001
        Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome   763350002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Congenital anomaly of brain   57148006
            Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome   763350002

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, obesity, brain malformation, facial dysmorphism syndrome   763350002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome   763350002

ancestors
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