733492003: Carney triad (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mass of body structure\Neoplasm of endocrine system (disorder)\Neoplasm of endocrine gland (disorder)\Neoplasm of multiple endocrine glands (disorder)\Carney triad

\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of endocrine system (disorder)\Neoplasm of endocrine gland (disorder)\Neoplasm of multiple endocrine glands (disorder)\Carney triad
\Disease\Disorder of body system\Disorder of endocrine system\Neoplasm of endocrine system (disorder)\Neoplasm of endocrine gland (disorder)\Neoplasm of multiple endocrine glands (disorder)\Carney triad
\Disease\Disorder of body system\Disorder of endocrine system\Polyglandular dysfunction AND/OR related disorder (disorder)\Polyglandular dysfunction\Carney triad

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

Descriptions:

Id Description Lang Type Status Case? Module

3499553019 Carney triad en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499554013 Carney triad (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500017013 A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumours (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anaemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The aetiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500018015 A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

962961000172119 triade de Carney fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1005251000172110 Carney-triade nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carney triad	Is a	Polyglandular dysfunction	true	Inferred relationship	Some
Carney triad	Is a	Neoplasm of multiple endocrine glands (disorder)	true	Inferred relationship	Some
Carney triad	Is a	Multisystem disorder	false	Inferred relationship	Some
Carney triad	Associated morphology	Neoplasm	true	Inferred relationship	Some	1
Carney triad	Finding site	Structure of multiple endocrine glands	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499553019	Carney triad	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499554013	Carney triad (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500017013	A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumours (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anaemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The aetiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500018015	A rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
962961000172119	triade de Carney	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1005251000172110	Carney-triade	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)