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715907003: Multiple endocrine neoplasia type 4 (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3304105014 Multiple endocrine neoplasia type 4 en Synonym Active Case insensitive SNOMED CT core
3304106010 MEN (multiple endocrine neoplasia) 4 syndrome en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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