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Neurofibromatoses (CUI C0162678) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0162678

NCI Thesaurus Code: C6727  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

NCIt Definition: An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas.

GARD Definition: Neurofibromatosis (NF) is a genetic condition that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms:

All three types of NF are inherited in an autosomal dominant manner. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms and may include surgery to remove tumors, radiation therapy and medicines. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.

There are three types of neurofibromatosis:

  • Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth.
  • Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years.
  • Schwannomatosis causes intense pain. It is the rarest type.

Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines.

NIH: National Institute of Neurological Disorders and Stroke

HPO Definition: The presence of multiple cutaneous neurofibromas. [HPO:probinson]

CTEP Definition: CTEP_For_FDA: 10029268/Neurofibromatosis

CSP Definition: group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas; neurofibromatosis 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., neurofibromatosis 2, neurofibromatosis 3, etc.) have been described.

MSH Definition: A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)

Synonyms & Abbreviations: (see Synonym Details)
Clinical neurofibromatosis
multiple neurofibromas
Multiple neurofibromatosis
Multiple Neurofibroma
NEUROFIBROMA, MULTIPLE
Neurofibromas, Multiple
Neurofibromas
Neurofibromata
Neurofibromatoses [Disease/Finding]
neurofibromatoses
Neurofibromatosis (morphologic abnormality)
Neurofibromatosis NOS
Neurofibromatosis syndrome (disorder)
Neurofibromatosis Syndromes
Neurofibromatosis Syndrome
Neurofibromatosis, NOS
Neurofibromatosis, unspecified
NEUROFIBROMATOSIS
NF - Neurofibromatosis
Syndrome, Neurofibromatosis
Syndromes, Neurofibromatosis

External Source Codes: 
NCI Thesaurus Code C6727 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN multiple neurofibromas; specifics are available MSH
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTEP NCI
Contributing_Source NICHD NCI
CTV3ID BBe1. SNOMEDCT_US
CTV3ID Xa99T SNOMEDCT_US
DATE_CREATED 11/16/2000 MEDLINEPLUS
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 2012-7338 CSP
DX 19930101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HAS_GARD_PAGE true GARD
HN 2000(1993) MSH
ICD-O-3_Code 9540/1 NCI
ICD-O-3_CODE 9540/1 SNOMEDCT_US
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Comment Added GARD
MDA 19920522 MSH
MESH_DEFINITION A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72) NDFRT
MESH_DUI D017253 NDFRT
MESH_NAME Neurofibromatoses NDFRT
MESH_UI M0026175 NDFRT
MMR 20090706 MSH
MN C04.557.580.600.580.590 MSH
MN C04.700.645 MSH
MN C10.562.600 MSH
MN C10.574.500.549 MSH
MN C16.320.400.560 MSH
MN C16.320.700.645 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/neurofibromatosis.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/neurofibromatosis.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
Neoplastic_Status Undetermined NCI
NICHD_Hierarchy_Term Neurofibromatosis NCI
NUI N0000003564 NDFRT
ORDER_NO 28106 ICD10CM
PM 2000; see NEUROFIBROMATOSIS 1993-1999 MSH
PRIMARY_PATH 10029268$10029300$10029299$10010331$Neurofibromatosis$Neurological disorders congenital NEC$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/10420/neurofibromatosis/resources/1 GARD
RXAUI 3200101 RXNORM
RXAUI 3206152 RXNORM
RXAUI 3206153 RXNORM
RXAUI 3206160 RXNORM
RXAUI 3206171 RXNORM
RXCUI 1024514 RXNORM
SID HP:0006746 HPO
SID HP:0007386 HPO
SID HP:0007612 HPO
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_STATUS I MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 19133005 NDFRT
SUBSET_MEMBER 446608001~MAPTARGET~9540/1 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q85.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q85.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q85.00 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q85.00 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~BBe1. SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~Xa99T SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERM_LEVEL 4 ICDO
TERM_LEVEL Synonym ICDO
TERMUI T051431 MSH
TERMUI T051432 MSH
TERMUI T372069 MSH
TERMUI T372777 MSH
TH NLM (1993) MSH
TH NLM (2000) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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