Neurofibromatosis Type 1

Preferred Label : Neurofibromatosis Type 1;

NCIt synonyms : Peripheral Neurofibromatosis; Neurofibromatosis 1;

NCIt related terms : Von Recklinghausen disease; NF1; Neurofibromatosis Type 1 Microdeletion Syndrome; Recklinghausen disease; Neurofibromatosis;

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.;

Alternative definition : NCI-GLOSS: 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: 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.;

Codes from synonyms : CDR0000339366; CDR0000045096;

Détails

Origin ID

C3273;

UMLS CUI

C0027831;

Automatic exact mappings (from CISMeF team)
- 17q11 microdeletion syndrome [ORDO Disease]
- Neurofibromatosis [ICD-9 code]
- Neurofibromatosis, NOS [ICD-11 Extension code]
- Neurofibromin 1 [OMIM gene]
- neurofibromatosis 1 [DO Concept]
- neurofibromin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Neurofibromas [HPO term]
- Neurofibromatosis [ORDO Disease]
- Neurofibromatosis [PASCAL descriptor]
- Neurofibromatosis [MedDRA Preferred Term]
- Neurofibromatosis (morphologic abnormality) [SNOMED CT concept]
- Neurofibromatosis NOS [ICD-9 code]
- Neurofibromatosis syndrome (disorder) [SNOMED CT concept]
- Neurofibromatosis type 1 [ICD-11 Sub-sub category]
- Neurofibromatosis type 1 [ORDO Disease]
- Neurofibromatosis type 1 (disorder) [SNOMED CT concept]
- Neurofibromatosis, type 1 (von Recklinghausen's disease) [MedDRA LLT]
- Neurofibromatosis, type I [OMIM Phenotype]
- Recklinghausen's neurofibromatosis [PASCAL descriptor]
- Von Recklinghausen's disease (of nerve) [MedDRA LLT]
- neurofibromatoses [MeSH Descriptor]
- neurofibromatosis [DO Concept]
- neurofibromatosis [Radlex concept]
- neurofibromatosis [MedlinePlus Topic]
- neurofibromatosis 1 [MeSH Descriptor]
- neurofibromatosis 1 [MeSH concept]
- neurofibromatosis type 1 [Disease (Nov.)]
- neurofibromatosis type 1 [Radlex concept]
- neurofibromatosis, type 1 [SNOMED Notion]
- neurofibromin 1 [ORDO Gene]
DO Cross reference
- neurofibromatosis 1 [DO Concept]
See also inter- (CISMeF)
- 17q11 deletion syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Neurofibromatosis type 1 [ORDO Disease]
- Neurofibromatosis type 1 [ICD-11 Sub-sub category]
- Neurofibromatosis type 1 (disorder) [SNOMED CT concept]
- Neurofibromatosis, type 1 (von Recklinghausen's disease) [MedDRA LLT]
- Neurofibromatosis, type 1 [von recklinghausen's disease] [ICD-9 code]
- Neurofibromatosis, type I [OMIM Phenotype]
- Von Recklinghausen's disease (of nerve) [MedDRA LLT]
- neurofibromatosis 1 [DO Concept]
- neurofibromatosis 1 [MeSH concept]
- neurofibromatosis 1 [MeSH Descriptor]
- neurofibromatosis type 1 [Radlex concept]
- neurofibromatosis type 1 [Disease (Nov.)]
- neurofibromatosis, type 1 [SNOMED Notion]
Validated automatic mappings to BTNT
- chromosome 17q11.2 deletion syndrome [DO Concept]
Validated automatic mappings to NTBT
- Neurofibromatoses [ICD-11 Subcategory]
associated_with_malfunction_of_gene_product
- Neurofibromin [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_excludes_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
- PTCH1 Gene Mutation [NCIt concept]
- PTEN Gene Mutation [NCIt concept]
- SMAD4 Gene Mutation [NCIt concept]
- STK11 Gene Mutation [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
- Nervous System Neoplasm [NCIt concept]
- Neurofibroma [NCIt concept]
disease_has_associated_disease
- Juvenile Myelomonocytic Leukemia Associated with Neurofibromatosis [NCIt concept]
- NF1-Associated Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
disease_has_finding
- Cafe Au Lait Spot [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Multiple Tumor Masses [NCIt concept]
disease_has_molecular_abnormality
- NF1 Gene Inactivation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 17 [NCIt concept]
disease_mapped_to_gene
- NF1 Gene [NCIt concept]
disease_may_have_associated_disease
- Adrenal Gland Pheochromocytoma [NCIt concept]
- Ampulla of Vater Neuroendocrine Neoplasm [NCIt concept]
- Breast Carcinoma [NCIt concept]
- Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Duodenal Neuroendocrine Tumor G1 [NCIt concept]
- Hydrocephalus [NCIt concept]
- Juvenile Myelomonocytic Leukemia Associated with Neurofibromatosis [NCIt concept]
- Macrocephaly [NCIt concept]
- NF1-Associated Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Neuropathy [NCIt concept]
- Optic Nerve Glioma [NCIt concept]
- Pilocytic Astrocytoma [NCIt concept]
- Rhabdomyosarcoma [NCIt concept]
- Seizure Disorder [NCIt concept]
may_be_associated_disease_of_disease
- Adult Dysembryoplastic Neuroepithelial Tumor [NCIt concept]
- Adult Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Advanced Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Cardiac Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Childhood Dysembryoplastic Neuroepithelial Tumor [NCIt concept]
- Childhood Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Cutaneous Juvenile Xanthogranuloma [NCIt concept]
- Disseminated Juvenile Xanthogranuloma [NCIt concept]
- Dysembryoplastic Neuroepithelial Tumor [NCIt concept]
- Glandular Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Head and Neck Juvenile Xanthogranuloma [NCIt concept]
- High Grade Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Juvenile Myelomonocytic Leukemia Associated with Neurofibromatosis [NCIt concept]
- Juvenile Myelomonocytic Leukemia Associated with Noonan Syndrome-Like Disorder [NCIt concept]
- Juvenile Xanthogranuloma [NCIt concept]
- Locally Advanced Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Low Grade Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Malignant Melanotic Peripheral Nerve Sheath Tumor of the Mediastinum [NCIt concept]
- Mediastinal Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Metastatic Malignant Peripheral Nerve Sheath Tumor [NCIt concept]
- Recurrent Juvenile Myelomonocytic Leukemia [NCIt concept]
- Refractory Juvenile Myelomonocytic Leukemia [NCIt concept]
pathogenesis_of_disease_involves_gene
- NF1 Gene [NCIt concept]
- NF1 wt Allele [NCIt concept]
related_to_genetic_biomarker
- NF1 Gene [NCIt concept]

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