multiple endocrine neoplasia type 2b

Preferred Label : multiple endocrine neoplasia type 2b;

MeSH definition : Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease.;

MeSH synonym : neoplasia, multiple endocrine type 2b; men2b; men iib; neuroma syndrome, mucosal; mea 2b; mea iib; mucosal neuroma syndrome; men 2b; mucosal neuroma syndromes; multiple endocrine neoplasms type 2b; neoplasms, multiple endocrine type 2b; men 3; men iii; Wagenmann-Froboese syndrome; syndrome, Wagenmann-Froboese; wagenmann froboese syndrome; multiple endocrine neoplasia, type 2b; neuromata, mucosal, with endocrine tumors; multiple endocrine neoplasia, type IIb;

MeSH annotation : coordinate IM with specific endocrine/neoplasm pre-coordinates (IM) specific histological type (IM) if pertinent;

Details

Origin ID

D018814;

UMLS CUI

C0025269;

Allowable qualifiers
- blood [MeSH Qualifier]
- blood supply [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- chemistry [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- secondary [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- -3 (qualifier value) [SNOMED CT concept]
- 2b (qualifier value) [SNOMED CT concept]
- 3+ Score [NCIt concept]
- 3+ Score, WHO [NCIt concept]
- <3 (qualifier value) [SNOMED CT concept]
- Arabic numeral 3 (qualifier value) [Inactive SNOMED CT concept]
- HIPAA Attachments [LOINC Class]
- Integer +3 (qualifier value) [SNOMED CT concept]
- Multiple endocrine neoplasia Type IIB [MedDRA LLT]
- Oncogene RET [NCIt concept]
- RET wt Allele [NCIt concept]
- Three [NCIt concept]
- disodium 2-(2,4,5,7-tetraiodo-6-oxido-3-oxoxanthen-9-yl)benzoate [Substance BNPC]
- ret proto-oncogene [ORDO Gene]
Currated CISMeF NLP mapping
- Multiple Endocrine Neoplasia Type 2B [NCIt concept]
- 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.)]
DO Cross reference
- multiple endocrine neoplasia type 2B [DO Concept]
Manual NTBT mappings (CISMeF)
- Genetic skin tumor or hamartoma [ORDO Disease]
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Malignant tumor of palpebral epidermis [ORDO Disease]
- Rare skin tumor or hamartoma [ORDO Disease]
ORDO relation(s)
- Multiple endocrine neoplasia type 2B [ORDO Disease]
Record concept(s)
- multiple endocrine neoplasia type 2b [MeSH concept]
Related MeSH Supplementary Concept(s)
- ganglioneuromatosis of the alimentary tract [MeSH Supplementary Concept]
See also
- carcinoma, medullary [MeSH Descriptor]
- pheochromocytoma [MeSH Descriptor]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple Endocrine Neoplasia Type 2B [NCIt 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 3 [SNOMED Notion]

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