Neurofibromatosis type 1   92824003

SNOMED CT code


SNOMED code92824003
nameNeurofibromatosis type 1
statusactive
date introduced2002-01-31
fully specified name(s)Neurofibromatosis type 1 (disorder)
synonyms
  • Neurofibromatosis type 1
  • Neurofibromatosis 1
  • Neurofibromatosis, peripheral type
  • Von Recklinghausen disease
  • NF1 - Neurofibromatosis type 1
  • Multiple non-ossifying fibromatosis
attributes - group2
OccurrenceCongenital   255399007
Associated morphologyNeurofibromatosis   81669005
Finding siteSkin structure   39937001
attributes - group1
Finding siteNervous system structure   25087005
OccurrenceCongenital   255399007
Associated morphologyNeurofibromatosis   81669005
parents
  • Autosomal dominant hereditary disorder   11164009
  • Neurofibromatosis syndrome   19133005
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of nervous system   363235000
children
  • 17q11 deletion syndrome   880093002
  • Axillary freckling due to neurofibromatosis   403815003
  • Elephantiasis neurofibromatosa   403819009
  • Familial spinal neurofibromatosis   1003465006
  • Multiple café-au-lait macules due to neurofibromatosis   403816002
  • Multiple neurofibromas in neurofibromatosis   403817006
  • Neurofibromatosis Noonan syndrome   715344006
  • Segmental neurofibromatosis type 1   1010653007
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
              Neurofibromatosis type 1   92824003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Neurocutaneous syndrome   78572006
          Neurofibromatosis syndrome   19133005
            Neurofibromatosis type 1   92824003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Neurofibromatosis type 1   92824003

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
            Neurofibromatosis type 1   92824003

ancestors
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