PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome   1208987006

SNOMED CT code


SNOMED code1208987006
namePHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
statusactive
date introduced2022-03-31
fully specified name(s)Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome (disorder)
synonyms
  • PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
  • PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
  • Pleckstrin homology domain interacting protein-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
  • Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome
  • Chung Jansen syndrome
attributes - group2
InterpretsBody weight measure   363808001
Has interpretationAbove reference range   281302008
attributes - group1
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Obesity   414916001
  • Multiple malformation syndrome with facial defects as major feature   65094009
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
          PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome   1208987006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome   1208987006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome   1208987006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Obesity   414916001
        PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome   1208987006

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
              PHIP-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome   1208987006

ancestors
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