Multiple Endocrine Neoplasia Type 2A

Preferred Label : Multiple Endocrine Neoplasia Type 2A;

NCIt synonyms : Multiple Endocrine Neoplasia Type II; MEA Type II; MEN Type 2a; Multiple Endocrine Neoplasia, Type II; MEN 2A; MEN Type II; Multiple Endocrine Adenomatosis Type II; MEA Type 2a; Multiple Endocrine Adenomatosis, Type II; Multiple Endocrine Adenomatosis Type 2A;

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

NCIt definition : Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.;

Alternative definition : NICHD: Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret. This condition is characterized by medullary thyroid carcinoma, accompanied in some cases by pheochromocytoma and parathyroid gland hyperplasia or adenoma.;

Neoplastic status : Undetermined;

Codes from synonyms : E31.22;

Details

Origin ID

C3226;

UMLS CUI

C0025268;

Automatic exact mappings (from CISMeF team)
- Multiple endocrine neoplasia type 2A [ICD-11 More detail]
- Multiple endocrine neoplasia type II [PASCAL descriptor]
Currated CISMeF NLP mapping
- MEA Type II [MedDRA LLT]
- MEN Type II [MedDRA LLT]
- Malignant multiple endocrine neoplasia type 2a (disorder) [SNOMED CT concept]
- Multiple endocrine adenomatosis Type II [MedDRA LLT]
- Multiple endocrine adenomatosis Type IIa [MedDRA LLT]
- Multiple endocrine neoplasia Type 2A [MedDRA Preferred Term]
- Multiple endocrine neoplasia Type II [MedDRA LLT]
- 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.)]
- multiple endocrine neoplasia type 2a [MeSH Descriptor]
- multiple endocrine neoplasia type 2a [MeSH concept]
DO Cross reference
- multiple endocrine neoplasia type 2A [DO Concept]
Disease excludes abnormal cell
- Neoplastic Smooth Muscle Cell [NCIt concept]
Disease excludes normal cell origin
- Thyroid Gland Follicular Cell [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same 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 2a [MeSH concept]
- multiple endocrine neoplasia type 2a [MeSH Descriptor]
- multiple endocrine neoplasia, type 2 [SNOMED Notion]
Validated automatic mappings to NTBT
- multiple endocrine neoplasia type 2 [Disease (Nov.)]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus 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]
- Neoplastic Endocrine Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
disease_has_associated_disease
- Hereditary Thyroid Gland Medullary Carcinoma [NCIt concept]
disease_has_finding
- Endocrine Differentiation [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Multifocal Lesion [NCIt concept]
disease_has_molecular_abnormality
- RET Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_mapped_to_gene
- RET Gene [NCIt concept]
disease_may_have_associated_disease
- Adrenal Gland Pheochromocytoma [NCIt concept]
- Parathyroid Gland Hyperplasia [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]

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