PTEN hamartoma tumor syndrome   722859001

SNOMED CT code


SNOMED code722859001
namePTEN hamartoma tumor syndrome
statusactive
date introduced2017-01-31
fully specified name(s)PTEN hamartoma tumor syndrome (disorder)
synonyms
  • PTEN hamartoma tumor syndrome
  • PTEN hamartoma tumour syndrome
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group1
Associated morphologyHamartoma   51398009
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
parents
  • Autosomal dominant hereditary disorder   11164009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Congenital hamartoma of skin   400083002
  • Multiple malformation syndrome with early overgrowth   48637007
  • Hereditary cancer-predisposing syndrome   699346009
children
  • Bannayan syndrome   234138005
  • Cowden syndrome   58037000
  • Proteus like syndrome   716862002
  • Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome   763867001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              PTEN hamartoma tumor syndrome   722859001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          PTEN hamartoma tumor syndrome   722859001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          PTEN hamartoma tumor syndrome   722859001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hamartoma   399960008
          Congenital hamartoma of skin   400083002
            PTEN hamartoma tumor syndrome   722859001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with early overgrowth   48637007
                PTEN hamartoma tumor syndrome   722859001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            PTEN hamartoma tumor syndrome   722859001

ancestors
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