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722377004: Paraganglioma and gastric stromal sarcoma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3331745011 Paraganglioma and gastric stromal sarcoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3331746012 Carney Stratakis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3331747015 Paraganglioma and gastric stromal sarcoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3331748013 Carney Stratakis dyad en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3331749017 A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
3331750017 A familial syndrome characterised by gastrointestinal stromal tumours and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localisation and the size of the tumours. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumours is inherited in an autosomal dominant manner with incomplete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3929171000052111 Carney-Stratakis syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Disorder of sympathetic nervous system (disorder) true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Neoplasm of uncertain behavior of nervous system true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Polyglandular dysfunction true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Paraganglioma true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Gastrointestinal stromal tumor (disorder) true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Hereditary cancer-predisposing syndrome true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Inherited autonomic nervous system disorder (disorder) true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Finding site Structure of multiple endocrine glands true Inferred relationship Some 3
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Associated morphology Gastrointestinal stromal tumor - category (morphologic abnormality) false Inferred relationship Some 3
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Finding site Gastrointestinal tract structure false Inferred relationship Some 3
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Associated morphology Paraganglioma false Inferred relationship Some 4
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Finding site Sympathetic nervous system structure false Inferred relationship Some 4
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Is a Congenital disease true Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Associated morphology Gastrointestinal stromal tumor - category (morphologic abnormality) true Inferred relationship Some 1
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Finding site Gastrointestinal tract structure true Inferred relationship Some 1
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Associated morphology Paraganglioma true Inferred relationship Some 2
Paraganglioma and gastric stromal sarcoma syndrome (disorder) Finding site Sympathetic nervous system structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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