multiple endocrine neoplasia type 2a

Preferred Label : multiple endocrine neoplasia type 2a;

MeSH definition : A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.;

MeSH synonym : sipple syndrome; men ii; men 2; neoplasia, multiple endocrine type 2a; multiple endocrine neoplasia type 2; neoplasms, multiple endocrine type 2a; men 2a; mea 2a; men iia; mea iia; men2a; mea ii; multiple endocrine neoplasms type 2a; MEN-2A syndrome; MEN 2A syndrome; MEN-2A syndromes; pheochromocytoma and Amyloid-Producing medullary thyroid carcinoma; pheochromocytoma and amyloid producing medullary thyroid carcinoma; multiple endocrine neoplasia, type IIa;

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

Details

Origin ID

D018813;

UMLS CUI

C0025268;

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)
- -2 (qualifier value) [SNOMED CT concept]
- 2 or more [EDAM data]
- 2+ Score [NCIt concept]
- 2+ Score, WHO [NCIt concept]
- 2a (qualifier value) [SNOMED CT concept]
- Arabic numeral 2 (qualifier value) [Inactive SNOMED CT concept]
- Integer +2 (qualifier value) [SNOMED CT concept]
- Multiple Endocrine Neoplasia Type 2 [NCIt concept]
- Multiple endocrine neoplasia Type 2 [MedDRA Preferred Term]
- Multiple endocrine neoplasia type 2 [ICD-11 More detail]
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- Multiple endocrine neoplasia type 2A [ICD-11 More detail]
- Multiple endocrine neoplasia, type 2 (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type I [OMIM Phenotype]
- Oncogene RET [NCIt concept]
- RET wt Allele [NCIt concept]
- Two [NCIt concept]
- multiple endocrine neoplasia, type 2 [SNOMED Notion]
- ret proto-oncogene [ORDO Gene]
Currated CISMeF NLP mapping
- Malignant multiple endocrine neoplasia type 2a (disorder) [SNOMED CT concept]
- Multiple Endocrine Neoplasia Type 2A [NCIt concept]
- Multiple endocrine adenomatosis Type IIa [MedDRA LLT]
- Multiple endocrine neoplasia Type 2A [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type IIA [MedDRA LLT]
- Multiple endocrine neoplasia type 2A [ORDO Disease]
- Multiple endocrine neoplasia type 2A (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type iia [OMIM Phenotype]
- multiple endocrine neoplasia type 2A [DO Concept]
- multiple endocrine neoplasia type 2a [Disease (Nov.)]
DO Cross reference
- multiple endocrine neoplasia type 2A [DO Concept]
Manual NTBT mappings (CISMeF)
- Catecholamine-producing tumor [ORDO Disease]
- Genetic skin tumor or hamartoma [ORDO Disease]
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Rare skin tumor or hamartoma [ORDO Disease]
- Thyroid carcinoma [ORDO Disease]
ORDO relation(s)
- Multiple endocrine neoplasia type 2A [ORDO Disease]
Record concept(s)
- multiple endocrine neoplasia type 2a [MeSH concept]
Related MeSH Supplementary Concept(s)
- familial medullary thyroid carcinoma [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 2A [NCIt concept]
- Multiple endocrine adenomatosis Type IIa [MedDRA LLT]
- Multiple endocrine neoplasia Type 2A [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type IIA [MedDRA LLT]
- Multiple endocrine neoplasia [MEN] type IIA [ICD-9 code]
- Multiple endocrine neoplasia type 2 [ORDO Disease]
- Multiple endocrine neoplasia type 2A [ORDO Disease]
- Multiple endocrine neoplasia type 2A (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type 2 (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type iia [OMIM Phenotype]
- multiple endocrine neoplasia type 2A [DO Concept]
- multiple endocrine neoplasia, type 2 [SNOMED Notion]
Validated automatic mappings to NTBT
- multiple endocrine neoplasia type 2 [Disease (Nov.)]

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