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733492003: Carney triad (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3499553019 Carney triad en Synonym Active Case sensitive SNOMED CT core
3499554013 Carney triad (disorder) en Fully specified name Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

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 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

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

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