Multiple Endocrine Neoplasia Type 2B

Preferred Label : Multiple Endocrine Neoplasia Type 2B;

NCIt synonyms : Multiple Endocrine Neoplasia Type III; MEN 2B; Multiple Endocrine Neoplasia Type IIB; MEN Type 2B; MEN Type IIB; MEN IIB; Multiple Endocrine Adenomatosis Type IIB; Multiple Endocrine Neoplasia, Type III; Multiple Endocrine Neoplasia Type 3;

NCIt related terms : Multiple endocrine neoplasia [MEN] type IIB;

NCIt definition : Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas.;

Alternative definition : NICHD: Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret (most commonly the M918T mutation). This condition is characterized by an aggressive form of medullary thyroid carcinoma, accompanied by pheochromocytoma, mucosal neuromas, thickened corneal nerves, and Marfanoid habitus in most affected individuals.;

Neoplastic status : Undetermined;

Codes from synonyms : E31.23;

Details

Origin ID

C3227;

UMLS CUI

C0025269;

Automatic exact mappings (from CISMeF team)
- Multiple endocrine neoplasia Type IIB [MedDRA LLT]
- Multiple endocrine neoplasia type III [PASCAL descriptor]
Currated CISMeF NLP mapping
- Multiple endocrine adenomatosis Type IIb [MedDRA LLT]
- Multiple endocrine neoplasia Type 2B [MedDRA Preferred Term]
- Multiple endocrine neoplasia type 2B [ICD-11 More detail]
- Multiple endocrine neoplasia type 2B [ORDO Disease]
- Multiple endocrine neoplasia type III [MedDRA LLT]
- Multiple endocrine neoplasia, type 3 (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type iib [OMIM Phenotype]
- multiple endocrine neoplasia type 2B [DO Concept]
- multiple endocrine neoplasia type 2b [Disease (Nov.)]
- multiple endocrine neoplasia type 2b [MeSH Descriptor]
- multiple endocrine neoplasia type 2b [MeSH concept]
- multiple endocrine neoplasia, type 3 [SNOMED Notion]
DO Cross reference
- multiple endocrine neoplasia type 2B [DO Concept]
Disease excludes normal cell origin
- Thyroid Gland Follicular Cell [NCIt concept]
Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple endocrine adenomatosis Type IIb [MedDRA LLT]
- Multiple endocrine neoplasia Type 2B [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type IIB [MedDRA LLT]
- Multiple endocrine neoplasia [MEN] type IIB [ICD-9 code]
- Multiple endocrine neoplasia type 2B [ORDO Disease]
- Multiple endocrine neoplasia type 2B [ICD-11 More detail]
- Multiple endocrine neoplasia type III [MedDRA LLT]
- Multiple endocrine neoplasia, type 3 (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type iib [OMIM Phenotype]
- multiple endocrine neoplasia type 2B [DO Concept]
- multiple endocrine neoplasia type 2b [Disease (Nov.)]
- multiple endocrine neoplasia type 2b [MeSH concept]
- multiple endocrine neoplasia type 2b [MeSH Descriptor]
- multiple endocrine neoplasia, type 3 [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- mCode Elixhauser Malignant Solid Tumors without Metastases Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
disease_has_associated_disease
- Hereditary Thyroid Gland Medullary Carcinoma [NCIt concept]
disease_has_finding
- Epithelial Component Present [NCIt concept]
- Multifocal Lesion [NCIt concept]
disease_has_molecular_abnormality
- RET Gene Mutation [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine Gland [NCIt concept]
disease_mapped_to_gene
- RET Gene [NCIt concept]
disease_may_have_associated_disease
- Adrenal Gland Pheochromocytoma [NCIt concept]
- Neuroma [NCIt concept]
may_be_associated_disease_of_disease
- Hereditary Thyroid Gland Medullary Carcinoma [NCIt concept]
- Recurrent Hereditary Thyroid Gland Medullary Carcinoma [NCIt concept]
- Unresectable Hereditary Thyroid Gland Medullary Carcinoma [NCIt concept]
related_to_genetic_biomarker
- RET Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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