Pierpont syndrome   1220594007

SNOMED CT code


SNOMED code1220594007
namePierpont syndrome
statusactive
date introduced2022-05-31
fully specified name(s)Pierpont syndrome (disorder)
synonyms
  • Plantar lipomatosis, facial dysmorphism, developmental delay syndrome
  • Pierpont syndrome
attributes - group2
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group1
Finding siteStructure of sole of foot   57999000
Associated morphologyLipomatosis   37095002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
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
          Pierpont syndrome   1220594007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Pierpont syndrome   1220594007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of lower limb   116312005
        Finding of ankle or foot   419518009
          Finding of foot region   116316008
            Disorder of foot   118932009
              Pierpont syndrome   1220594007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Global developmental delay   224958001
            Pierpont syndrome   1220594007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Pierpont syndrome   1220594007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Lipomatosis   402693001
        Pierpont syndrome   1220594007

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
              Pierpont syndrome   1220594007

ancestors
sorted most to least specific
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