loading...| Preferred Name |
Neurofibromatosis |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C6727 |
| ALT_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) |
| code |
C6727 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103054 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
CTEP NICHD |
| 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. |
| FULL_SYN |
Neurofibromatosis Syndrome |
| Has_NICHD_Parent | |
| ICD-O-3_Code |
9540/1 |
| label |
Neurofibromatosis |
| Legacy_Concept_Name |
Neurofibromatosis |
| Neoplastic_Status |
Undetermined |
| NICHD_Hierarchy_Term |
Neurofibromatosis |
| Preferred_Name |
Neurofibromatosis |
| prefixIRI |
C6727 |
| prefLabel |
Neurofibromatosis |
| Semantic_Type |
Neoplastic Process |
| UMLS_CUI |
C0162678 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162678 | MedlinePlus Health Topics | LOOM | |
| http://purl.obolibrary.org/obo/DOID_8712 | Human Disease Ontology 123 | LOOM |