Neurofibromatosis

Preferred Label : Neurofibromatosis;

NCIt synonyms : Neurofibromatosis 1 and 2 NF1 and NF2;

NCIt related terms : Neurofibromatosis, NOS; Neurofibromatosis Syndrome;

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.;

ICD-O code : 9540/1;

Codes from synonyms : 10029268;

Détails

Origin ID

C6727;

UMLS CUI

C0162678;

Automatic exact mappings (from CISMeF team)
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ACR pathology]
- Neurofibromatosis [ICD-9 code]
- Neurofibromatosis II [PASCAL descriptor]
- Neurofibromatosis, NOS [ICD-11 Extension code]
- neurofibromatosis 2 [MeSH Descriptor]
- neurofibromatosis syndrome [SNOMED Notion]
- neurofibromin 1 [HGNC gene]
Currated CISMeF NLP mapping
- Neurofibroma (disorder) [SNOMED CT concept]
- Neurofibromas [HPO term]
- Neurofibromatoses [ICD-11 Subcategory]
- Neurofibromatosis [PASCAL descriptor]
- Neurofibromatosis [MedDRA Preferred Term]
- Neurofibromatosis [ORDO Disease]
- Neurofibromatosis (morphologic abnormality) [SNOMED CT concept]
- Neurofibromatosis NOS [ICD-9 code]
- Neurofibromatosis syndrome (disorder) [SNOMED CT concept]
- Neurofibromatosis, NOS [ICD-O code]
- neurofibroma [MeSH concept]
- neurofibromatoses [MeSH Descriptor]
- neurofibromatoses [MeSH concept]
- neurofibromatosis [DO Concept]
- neurofibromatosis [Disease (Nov.)]
- neurofibromatosis [MedlinePlus Topic]
- neurofibromatosis [Radlex concept]
- neurofibromatosis 1 [MeSH Descriptor]
- neurofibromatosis, nos [SNOMED Notion]
- neurofibromin 1 [ORDO Gene]
DO Cross reference
- neurofibromatosis [DO Concept]
False automatic mappings
- Neurofibromatosis (nonmalignant) [ICD-10 Sub-category (who)]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Neurofibromas [HPO term]
- Neurofibromatosis [MedDRA Preferred Term]
- Neurofibromatosis [ICD-9 code]
- Neurofibromatosis [ORDO Disease]
- Neurofibromatosis [PASCAL descriptor]
- Neurofibromatosis (morphologic abnormality) [SNOMED CT concept]
- Neurofibromatosis syndrome (disorder) [SNOMED CT concept]
- Neurofibromatosis, NOS [ICD-O code]
- Neurofibromatosis, unspecified [MedDRA LLT]
- Neurofibromatosis, unspecified [ICD-9 code]
- neurofibromatoses [MeSH concept]
- neurofibromatoses [MeSH Descriptor]
- neurofibromatosis [MedlinePlus Topic]
- neurofibromatosis [Radlex concept]
- neurofibromatosis [DO Concept]
- neurofibromatosis [Disease (Nov.)]
- neurofibromatosis syndrome [SNOMED Notion]
- neurofibromatosis, nos [SNOMED Notion]
concept_is_in_subset
- CPTAC Codelists Terminology [NCIt concept]
- CPTAC Neoplasms Codelist [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology PT Terminology [NCIt concept]
- Mapped ICDO3.1 Morphology Terminology [NCIt concept]
- Mapped ICDO3.1 Terminology [NCIt concept]
- NCI CTEP SDC Neurofibromatosis Sub-Category Terminology [NCIt concept]
- NCI CTEP Simplified Disease Classification Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network 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]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Multiple Tumor Masses [NCIt concept]
may_be_associated_disease_of_disease
- Constitutional Mismatch Repair Deficiency Syndrome [NCIt concept]
related_to_genetic_biomarker
- NF1 Gene [NCIt concept]
- NF2 Gene [NCIt concept]

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