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Neurofibromatosis 2 (CUI C0027832) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0027832

NCI Thesaurus Code: C3274  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

NCIt Definition: An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene. It is characterized by the development of peripheral and central nervous system tumors including acoustic schwannomas, neurofibromas, gliomas, and meningiomas.

GARD Definition: Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on nerves in other areas of the brain or spinal cord are also commonly seen with this condition. Mutations in the NF2 gene cause neurofibromatosis type 2. Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: A genetic condition in which tumors form on the nerves of the inner ear and cause loss of hearing and balance. Tumors may also occur in the brain and on nerves in the skull and spinal cord, and may cause loss of speech, eye movement, and the ability to swallow.

MSH Definition: An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.

Synonyms & Abbreviations: (see Synonym Details)
Acoustic Neurofibromatoses, Bilateral
Acoustic Neurofibromatosis, Bilateral
Acoustic neurofibromatosis
BANF - Bilateral acoustic neurofibromatosis
BANF
Bilateral Acoustic Neurofibromatoses
Bilateral acoustic neurofibromatosis
Central Neurofibromatoses
Central Neurofibromatosis
Central NF2 Neurofibromatoses
Central NF2 Neurofibromatosis
Familial acoustic neuroma
Familial vestibular schwannoma
Neurofibromatoses, Bilateral Acoustic
Neurofibromatoses, Central NF2
Neurofibromatoses, Central
Neurofibromatoses, Type 2
Neurofibromatoses, Type II
Neurofibromatosis 2 [Disease/Finding]
Neurofibromatosis 2
NEUROFIBROMATOSIS A 02
NEUROFIBROMATOSIS CENTRAL NF 02
Neurofibromatosis central type
Neurofibromatosis IIs
Neurofibromatosis II
Neurofibromatosis typ II
Neurofibromatosis type 2 (disorder)
Neurofibromatosis type 2
Neurofibromatosis type II
Neurofibromatosis, Acoustic, Bilateral
Neurofibromatosis, Bilateral Acoustic
Neurofibromatosis, Central NF2
Neurofibromatosis, central type
Neurofibromatosis, Central, NF 2
Neurofibromatosis, Central, NF2
Neurofibromatosis, Central
Neurofibromatosis, type 2 (acoustic neurofibromatosis)
Neurofibromatosis, type 2 [acoustic neurofibromatosis]
Neurofibromatosis, type 2
Neurofibromatosis, Type II
NF2 (Neurofibromatosis 2)
NF2s (Neurofibromatosis 2)
NF2
Type 2 Neurofibromatoses
Type 2 Neurofibromatosis
Type II Neurofibromatoses
Type II Neurofibromatosis

External Source Codes: 
NCI Thesaurus Code C3274 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with NEUROFIBROMATOSIS 1; coord IM with precoord/neopl term (IM) if relevant MSH
AQL BL CF CI CL 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 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID X78E2 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_FIRST_PUBLISHED 2006-03-17 PDQ
DATE_LAST_MODIFIED 2012-02-29 PDQ
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 33463 GARD
DISEASE_IDENTIFIER_ID 4986 GARD
DISEASE_IDENTIFIER_ID 4987 GARD
DISEASE_IDENTIFIER_ID 4989 GARD
DISEASE_IDENTIFIER_ID 4991 GARD
DX 19920101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D016515 MSH
FX D025581 MSH
GENELOCUS ,2,2,q,1,2,.,2, OMIM
GENESYMBOL NF2 OMIM
HAS_GARD_PAGE true GARD
HN 1992; NEUROFIBROMATOSIS, CENTRAL, NF2 use NEUROFIBROMATOSIS, CENTRAL, NF-2 use NEUROMA, ACOUSTIC 1989-1991; NEUROMA, ACOUSTIC, BILATERAL use NEUROMA, ACOUSTIC 1989-91 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Comment Added GARD
LAST_REVIEW_DATE 2009-10-13T00:00:00 GARD
MDA 19910621 MSH
MESH_DEFINITION An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life. NDFRT
MESH_DUI D016518 NDFRT
MESH_NAME Neurofibromatosis 2 NDFRT
MESH_UI M0025211 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160628 MSH
MN C04.557.465.625.650.595.610.500 MSH
MN C04.557.580.600.580.590.655 MSH
MN C04.557.580.600.610.595.610.500 MSH
MN C04.700.645.655 MSH
MN C09.218.807.800.675.500 MSH
MN C09.647.675.500 MSH
MN C10.292.225.750.500 MSH
MN C10.292.910.600.500 MSH
MN C10.562.600.750 MSH
MN C10.574.500.549.700 MSH
MN C16.320.400.560.700 MSH
MN C16.320.700.645.655 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NCI_THESAURUS_CODE C3274 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
Neoplastic_Status Undetermined NCI
NUI N0000003427 NDFRT
ORDER_NO 28108 ICD10CM
ORIG_STY Genetic condition PDQ
PM 1992; NEUROFIBROMATOSIS, CENTRAL, NF2 see NEUROFIBROMATOSIS, CENTRAL, NF-2 see NEUROMA, ACOUSTIC 1989-1991; NEUROMA, ACOUSTIC, BILATERAL see NEUROMA, ACOUSTIC 1989-1991 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7193/neurofibromatosis-type-2/resources/1 GARD
RXAUI 3117602 RXNORM
RXAUI 3202709 RXNORM
RXAUI 3206163 RXNORM
RXAUI 3206165 RXNORM
RXAUI 3206169 RXNORM
RXAUI 3206176 RXNORM
RXAUI 3206180 RXNORM
RXAUI 3206182 RXNORM
RXAUI 3206184 RXNORM
RXAUI 3206185 RXNORM
RXAUI 3206186 RXNORM
RXAUI 3206191 RXNORM
RXAUI 3206193 RXNORM
RXAUI 5930527 RXNORM
RXAUI 5931783 RXNORM
RXCUI 1027451 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 12.0 MDR
SMQ_TERM_CAT A 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 92503002 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q85.0 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE 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 Q85.02 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~Q85.02 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X78E2 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
TERMUI T049405 MSH
TERMUI T049406 MSH
TERMUI T049407 MSH
TERMUI T049408 MSH
TERMUI T369984 MSH
TERMUI T369986 MSH
TERMUI T369987 MSH
TERMUI T369988 MSH
TERMUI T369989 MSH
TERMUI T369990 MSH
TERMUI T369991 MSH
TERMUI T372689 MSH
TERMUI T844308 MSH
TERMUI T844309 MSH
TH GHR (2014) MSH
TH NLM (1992) MSH
TH NLM (2000) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0027832

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