Beckwith-Wiedemann syndrome   81780002

SNOMED CT code


SNOMED code81780002
nameBeckwith-Wiedemann syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Beckwith-Wiedemann syndrome (disorder)
synonyms
  • Beckwith's syndrome
  • Beckwith-Wiedemann syndrome
  • Wiedemann-Beckwith syndrome
  • Exomphalos-macroglossia-gigantism syndrome
attributes - group2
Finding siteEntire tongue   181226008
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyEnlargement   442021009
attributes - group4
Associated morphologyHernial opening   414402003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteUmbilical structure   78220002
attributes - group1
Associated morphologyHernia   414403008
OccurrenceCongenital   255399007
Finding siteIntra-abdominopelvic structure   818986006
attributes - group5
Finding siteStructure of distal part of pituitary   52618001
Pathological processPathological developmental process   308490002
attributes - group7
InterpretsHeight / growth measure   271603002
attributes - group6
OccurrenceCongenital   255399007
Finding siteStructure of distal part of pituitary   52618001
attributes - group3
Has interpretationIncreased   35105006
InterpretsHormone production   35188005
parents
  • Congenital omphalocele   18735004
  • Congenital macroglossia   270516002
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of endocrine system   363104002
  • Hereditary disorder of nervous system   363235000
  • Multiple malformation syndrome with early overgrowth   48637007
  • Hereditary cancer-predisposing syndrome   699346009
  • Gigantism   80849007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Umbilicus finding   249537008
        Disorder of umbilicus   397320006
          Umbilical hernia   396347007
            Congenital omphalocele   18735004
              Beckwith-Wiedemann syndrome   81780002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Tongue finding   249378009
        Disorder of tongue   69244009
          Enlargement of tongue   25273001
            Congenital macroglossia   270516002
              Beckwith-Wiedemann syndrome   81780002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Beckwith-Wiedemann syndrome   81780002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Beckwith-Wiedemann syndrome   81780002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            Beckwith-Wiedemann syndrome   81780002

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
            Beckwith-Wiedemann syndrome   81780002

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
                Beckwith-Wiedemann syndrome   81780002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary cancer-predisposing syndrome   699346009
            Beckwith-Wiedemann syndrome   81780002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Gigantism   80849007
          Beckwith-Wiedemann syndrome   81780002

ancestors
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