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715907003: multipele endocriene neoplasie type 4 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304104013 Multiple endocrine neoplasia type 4 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304105014 Multiple endocrine neoplasia type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304106010 MEN (multiple endocrine neoplasia) 4 syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
10221761000146117 multipele endocriene neoplasie type 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10221771000146111 multipele endocriene neoplasie type 4 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10221781000146113 MEN4 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10221791000146110 meervoudige endocriene neoplasie type 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3304107018 A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304108011 A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumours, possibly associated with adrenal, renal, and reproductive organ tumours. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple endocrine neoplasia type 4 (disorder) Is a Polyglandular activity in multiple endocrine adenomatosis true Inferred relationship Some
Multiple endocrine neoplasia type 4 (disorder) Associated morphology Multiple endocrine adenomas (morphologic abnormality) true Inferred relationship Some 1
Multiple endocrine neoplasia type 4 (disorder) Finding site Structure of multiple endocrine glands true Inferred relationship Some 1
Multiple endocrine neoplasia type 4 (disorder) Is a Genetic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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