722377004: Paraganglioma and gastric stromal sarcoma syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Digestive system finding\Mass of digestive structure\Neoplasm of digestive system\Malignant neoplasm of digestive system\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Digestive system finding\Mass of digestive structure\Neoplasm of digestive system\Gastrointestinal stromal tumor\Carney Stratakis syndrome
\Digestive system finding\Mass of digestive structure\Neoplasm of digestive system\Neoplasm of digestive tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Carney Stratakis syndrome
\Digestive system finding\Disorder of digestive system\Neoplasm of digestive system\Malignant neoplasm of digestive system\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Digestive system finding\Disorder of digestive system\Neoplasm of digestive system\Gastrointestinal stromal tumor\Carney Stratakis syndrome
\Digestive system finding\Disorder of digestive system\Neoplasm of digestive system\Neoplasm of digestive tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Neoplasm of digestive tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome

\Mass of body structure\Mass of digestive structure\Neoplasm of digestive system\Malignant neoplasm of digestive system\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Mass of body structure\Mass of digestive structure\Neoplasm of digestive system\Gastrointestinal stromal tumor\Carney Stratakis syndrome
\Mass of body structure\Mass of digestive structure\Neoplasm of digestive system\Neoplasm of digestive tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Carney Stratakis syndrome

\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Carney Stratakis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Carney Stratakis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Carney Stratakis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Carney Stratakis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Carney Stratakis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Malignant neoplastic disease\Malignant neoplasm of digestive system\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Malignant neoplastic disease\Sarcoma\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neuroendocrine tumour\Paraganglioma\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of digestive system\Malignant neoplasm of digestive system\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of digestive system\Gastrointestinal stromal tumor\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of digestive system\Neoplasm of digestive tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplastic disease of uncertain behaviour\Paraganglioma\Carney Stratakis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplastic disease of uncertain behaviour\Neoplasm of uncertain behaviour of nervous system\Carney Stratakis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Carney Stratakis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Carney Stratakis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Carney Stratakis syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Carney Stratakis syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Polyglandular dysfunction AND/OR related disorders\Polyglandular dysfunction\Carney Stratakis syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Carney Stratakis syndrome
\Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Carney Stratakis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder\Carney Stratakis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Disorder of sympathetic nervous system\Carney Stratakis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Carney Stratakis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Neoplasm of digestive system\Malignant neoplasm of digestive system\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Neoplasm of digestive system\Gastrointestinal stromal tumor\Carney Stratakis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Neoplasm of digestive system\Neoplasm of digestive tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Neoplasm of digestive tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Neoplasm of gastrointestinal tract\Malignant neoplasm of gastrointestinal tract\Carney Stratakis syndrome
\Disease\Congenital disease\Carney Stratakis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331745011 Paraganglioma and gastric stromal sarcoma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331746012 Carney Stratakis syndrome en Synonym Active Case sensitive SNOMED CT core

3331747015 Paraganglioma and gastric stromal sarcoma syndrome en Synonym Active Case insensitive SNOMED CT core

3331748013 Carney Stratakis dyad en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carney Stratakis syndrome	Is a	Neoplasm of gastrointestinal tract	false	Inferred relationship	Some
Carney Stratakis syndrome	Associated morphology	Gastrointestinal stromal sarcoma	true	Inferred relationship	Some	1
Carney Stratakis syndrome	Is a	Primary malignant neoplasm of gastrointestinal tract	false	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Sarcoma	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Malignant neoplasm of gastrointestinal tract	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Disorder of sympathetic nervous system	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Neoplasm of uncertain behaviour of nervous system	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Polyglandular dysfunction	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Paraganglioma	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Gastrointestinal stromal tumor	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Hereditary neoplastic syndrome	true	Inferred relationship	Some
Carney Stratakis syndrome	Is a	Inherited autonomic nervous system disorder	true	Inferred relationship	Some
Carney Stratakis syndrome	Finding site	Structure of multiple endocrine glands	true	Inferred relationship	Some	3
Carney Stratakis syndrome	Associated morphology	Gastrointestinal stromal tumour	false	Inferred relationship	Some	3
Carney Stratakis syndrome	Finding site	Gastrointestinal tract structure	false	Inferred relationship	Some	3
Carney Stratakis syndrome	Associated morphology	Paraganglioma	false	Inferred relationship	Some	4
Carney Stratakis syndrome	Finding site	Sympathetic nervous system structure	false	Inferred relationship	Some	4
Carney Stratakis syndrome	Is a	Congenital disease	true	Inferred relationship	Some
Carney Stratakis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Carney Stratakis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Carney Stratakis syndrome	Associated morphology	Gastrointestinal stromal tumour	false	Inferred relationship	Some	1
Carney Stratakis syndrome	Finding site	Gastrointestinal tract structure	true	Inferred relationship	Some	1
Carney Stratakis syndrome	Associated morphology	Paraganglioma	true	Inferred relationship	Some	2
Carney Stratakis syndrome	Finding site	Sympathetic nervous system structure	true	Inferred relationship	Some	2

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331745011	Paraganglioma and gastric stromal sarcoma syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331746012	Carney Stratakis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331747015	Paraganglioma and gastric stromal sarcoma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331748013	Carney Stratakis dyad	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core