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Neurofibromatosis 1 (CUI C0027831) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0027831

NCI Thesaurus Code: C3273  (see NCI Thesaurus info)

Semantic Type: Neoplastic Process

NCIt Definition: The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.

GARD Definition: Neurofibromatosis type 1 (NF1) is an inherited condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. Mutations in the NF1 gene cause neurofibromatosis type 1. This condition is considered to have an autosomal dominant pattern of inheritance. - this information is from GARD/ORDR/NCATS.

NCI-GLOSS Definition: A rare genetic condition that causes brown spots and tumors on the skin, freckling in skin areas not exposed to the sun, tumors on the nerves, and developmental changes in the nervous system, muscles, bone, and skin.

NICHD Definition: An autosomal dominant form of neurofibromatosis caused by mutation(s) in the NF1 gene, encoding neurofibromin. The clinical features of this condition may include smooth bordered areas of hyperpigmentation, known as cafe-au-lait spots, axillary freckling, Lisch nodules, short stature, cutaneous and subcutaneous tumors (neurofibromas), optic nerve gliomas, precocious puberty, and growth hormone excess.

MSH Definition: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Synonyms & Abbreviations: (see Synonym Details)
Molluscum Fibrosum
Neurofibromatoses, Peripheral
Neurofibromatoses, Type I
Neurofibromatosis 1 [Disease/Finding]
Neurofibromatosis 1
NEUROFIBROMATOSIS A 01
Neurofibromatosis I
Neurofibromatosis Type 1 Microdeletion Syndrome
Neurofibromatosis type 1
Neurofibromatosis type I
Neurofibromatosis, Peripheral Type
Neurofibromatosis, Peripheral, NF 1
Neurofibromatosis, Peripheral, NF1
Neurofibromatosis, Peripheral
Neurofibromatosis, type 1 (disorder)
Neurofibromatosis, type 1 (von Recklinghausen's disease)
Neurofibromatosis, type 1 [von recklinghausen's disease]
Neurofibromatosis, type 1
Neurofibromatosis, Type I
Neurofibromatosis
NF1 (Neurofibromatosis 1)
NF1
Peripheral Neurofibromatoses
Peripheral Neurofibromatosis
PHAKOMATOSIS RECKLINGHAUSEN
RECKLINGHAUSEN DIS OF NERVE
Recklinghausen Disease of Nerve
Recklinghausen Disease, Nerve
RECKLINGHAUSEN DISEASE
Recklinghausen's disease (except of Bone)
Recklinghausen's Disease of Nerve
Recklinghausen's disease
Recklinghausen's neurofibromatosis
RECKLINGHAUSENS DIS OF NERVE
Recklinghausens Disease of Nerve
Type 1 neurofibromatosis
Type 1, Neurofibromatosis
Type I Neurofibromatoses
Type I, Neurofibromatosis
VON RECKLINGHAUSEN DISEASE
VON RECKLINGHAUSEN DIS
Von Recklinghausen's disease (except of Bone)
Von Recklinghausen's disease (of nerve)
Von Recklinghausen's Disease
von Recklinghausens Disease
VON RECKLINGHAUSENS DIS

External Source Codes: 
NCI Thesaurus Code C3273 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with NEUROFIBROMATOSIS 2; coord IM with precoord organ/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
Contributing_Source CTRP NCI
Contributing_Source NICHD NCI
CTV3ID B927. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
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
DID 2012-7338 CSP
DISEASE_IDENTIFIER_ID 6010 GARD
DISEASE_IDENTIFIER_ID 6011 GARD
DISEASE_IDENTIFIER_ID 6012 GARD
DISEASE_IDENTIFIER_ID 6013 GARD
DX 19920101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D009634 MSH
FX D016514 MSH
FX D025542 MSH
FX D044542 MSH
GENELOCUS ,1,7,q,1,1,.,2, OMIM
GENESYMBOL NF1 OMIM
GENESYMBOL NFNS OMIM
GENESYMBOL VRNF OMIM
GENESYMBOL WSS OMIM
HAS_GARD_PAGE true GARD
HN 1992(1966); for NEUROFIBROMATOSIS, PERIPHERAL, NF1 use NEUROFIBROMATOSIS 1989-1991 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-10-13T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS). NDFRT
MESH_DUI D009456 NDFRT
MESH_NAME Neurofibromatosis 1 NDFRT
MESH_UI M0014710 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160628 MSH
MN C04.557.580.600.580.590.650 MSH
MN C04.700.645.650 MSH
MN C10.562.600.500 MSH
MN C10.574.500.549.400 MSH
MN C10.668.829.675 MSH
MN C16.320.400.560.400 MSH
MN C16.320.700.645.650 MSH
NCI_THESAURUS_CODE C3273 PDQ
NDFRT_KIND DISEASE_KIND NDFRT
Neoplastic_Status Undetermined NCI
NICHD_Hierarchy_Term Neurofibromatosis Type 1 NCI
NUI N0000002171 NDFRT
ORDER_NO 28107 ICD10CM
ORIG_STY Genetic condition PDQ
PID 6652 PDQ
PM 1992; see NEUROFIBROMATOSIS 1966-91; for NEUROFIBROMATOSIS, PERIPHERAL, NF1 see NEUROFIBROMATOSIS 1989-1991 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7866/neurofibromatosis-type-1/resources/1 GARD
RXAUI 3202704 RXNORM
RXAUI 3206161 RXNORM
RXAUI 3206162 RXNORM
RXAUI 3206168 RXNORM
RXAUI 3206173 RXNORM
RXAUI 3206179 RXNORM
RXAUI 3206188 RXNORM
RXAUI 3206189 RXNORM
RXAUI 3206190 RXNORM
RXAUI 3206192 RXNORM
RXAUI 3219270 RXNORM
RXAUI 3230948 RXNORM
RXAUI 3230952 RXNORM
RXAUI 3230953 RXNORM
RXAUI 3263266 RXNORM
RXAUI 3263267 RXNORM
RXAUI 5039724 RXNORM
RXAUI 5931649 RXNORM
RXAUI 5932165 RXNORM
RXCUI 1023199 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 92824003 NDFRT
SNOMEDID D4-01019 SNOMEDCT_US
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 Q85.01 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF AXILLARY FRECKLING DUE TO NEUROFIBROMATOSIS CHOOSE L81.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ELEPHANTIASIS NEUROFIBROMATOSA CHOOSE I89.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF MULTIPLE CAFÉ-AU-LAIT MACULES DUE TO NEUROFIBROMATOSIS CHOOSE L81.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 403815003 | Axillary freckling due to neurofibromatosis (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 403816002 | Multiple café-au-lait macules due to neurofibromatosis (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 403819009 | Elephantiasis neurofibromatosa (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~I89.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~L81.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~L81.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q85.01 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~B927. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-01019 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 Synonym ICDO
TERMUI T028173 MSH
TERMUI T028174 MSH
TERMUI T028175 MSH
TERMUI T028176 MSH
TERMUI T028177 MSH
TERMUI T028178 MSH
TERMUI T028179 MSH
TERMUI T028180 MSH
TERMUI T371057 MSH
TERMUI T371058 MSH
TERMUI T371059 MSH
TERMUI T371060 MSH
TERMUI T371061 MSH
TERMUI T371062 MSH
TERMUI T371063 MSH
TERMUI T811774 MSH
TERMUI T841796 MSH
TERMUI T842127 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (1992) MSH
TH NLM (2000) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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