Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Neurofibromatoses
Synonyms

Neurofibroma, Multiple
Definitions

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)
ID

http://purl.bioontology.org/ontology/MESH/D017253
altLabel

Neurofibroma, Multiple

Multiple Neurofibroma

Neurofibromatosis Type 3

Syndromes, Neurofibromatosis

Neurofibromatosis 3s

Neurofibromatosis

Syndrome, Neurofibromatosis

Multiple Neurofibromas

Neurofibromatosis Syndromes

Neurofibromatosis Type 3s

Neurofibromas, Multiple

Type 3, Neurofibromatosis

Neurofibromatosis Syndrome

Neurofibromatosis 3
AN

multiple neurofibromas; specifics are available
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
cui

C0162678

C0917817
DC

1
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)
DX

19930101
HN

2000(1993)
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000151

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D006816

http://purl.bioontology.org/ontology/MESH/D054546

http://purl.bioontology.org/ontology/MESH/D015418

http://purl.bioontology.org/ontology/MESH/D028227

http://purl.bioontology.org/ontology/MESH/D020279

http://purl.bioontology.org/ontology/MESH/D061325

http://purl.bioontology.org/ontology/MESH/D016098

http://purl.bioontology.org/ontology/MESH/D038261

http://purl.bioontology.org/ontology/MESH/D001260

http://purl.bioontology.org/ontology/MESH/D017825

http://purl.bioontology.org/ontology/MESH/D038901

http://purl.bioontology.org/ontology/MESH/D009396

http://purl.bioontology.org/ontology/MESH/D009224

http://purl.bioontology.org/ontology/MESH/D014897

http://purl.bioontology.org/ontology/MESH/D016864

http://purl.bioontology.org/ontology/MESH/D015417

http://purl.bioontology.org/ontology/MESH/D014402

http://purl.bioontology.org/ontology/MESH/D006223

http://purl.bioontology.org/ontology/MESH/D006527

http://purl.bioontology.org/ontology/MESH/D058249

http://purl.bioontology.org/ontology/MESH/D018319

http://purl.bioontology.org/ontology/MESH/D006211

http://purl.bioontology.org/ontology/MESH/D005879

http://purl.bioontology.org/ontology/MESH/D004416

http://purl.bioontology.org/ontology/MESH/D003123

http://purl.bioontology.org/ontology/MESH/D003057

http://purl.bioontology.org/ontology/MESH/D001478

http://purl.bioontology.org/ontology/MESH/D005097

http://purl.bioontology.org/ontology/MESH/D013341

http://purl.bioontology.org/ontology/MESH/D020192

http://purl.bioontology.org/ontology/MESH/D009223

http://purl.bioontology.org/ontology/MESH/D009377

http://purl.bioontology.org/ontology/MESH/D013132

http://purl.bioontology.org/ontology/MESH/D055534

http://purl.bioontology.org/ontology/MESH/D006623

http://purl.bioontology.org/ontology/MESH/D011125

http://purl.bioontology.org/ontology/MESH/D009477

http://purl.bioontology.org/ontology/MESH/D018318

http://purl.bioontology.org/ontology/MESH/D010580

http://purl.bioontology.org/ontology/MESH/D020194

http://purl.bioontology.org/ontology/MESH/D054000

http://purl.bioontology.org/ontology/MESH/D009472

http://purl.bioontology.org/ontology/MESH/D004422
Machine permutation

2000; see NEUROFIBROMATOSIS 1993-1999
Mapped from

http://purl.bioontology.org/ontology/MESH/C537391

http://purl.bioontology.org/ontology/MESH/C563522

http://purl.bioontology.org/ontology/MESH/C567173

http://purl.bioontology.org/ontology/MESH/C537393

http://purl.bioontology.org/ontology/MESH/C537390

http://purl.bioontology.org/ontology/MESH/C536641

http://purl.bioontology.org/ontology/MESH/C563524

http://purl.bioontology.org/ontology/MESH/C537392

http://purl.bioontology.org/ontology/MESH/C563523

http://purl.bioontology.org/ontology/MESH/C537389
MDA

19920522
MMR

20180629
MN

C16.320.400.560

C10.562.600

C04.700.631

C04.557.580.600.580.590

C10.574.500.549

C16.320.700.633
notation

D017253
prefLabel

Neurofibromatoses
TERMUI

T372777

T750592

T051432

T051431

T372069

T372070
TH

NLM (1993)

NLM (2000)

NLM (2010)

ORD (2010)
tui

T191
subClassOf

http://purl.bioontology.org/ontology/MESH/D009386

http://purl.bioontology.org/ontology/MESH/D020271

http://purl.bioontology.org/ontology/MESH/D020752

http://purl.bioontology.org/ontology/MESH/D009455
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http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162678 MedlinePlus Health Topics CUI
http://purl.bmicc.cn/ontology/ICD11CN/LD2D.1 International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q85.00 International Classification of Diseases, Version 10 - Clinical Modification CUI