716857003: Hereditary pheochromocytoma and paraganglioma (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary pheochromocytoma and paraganglioma (disorder)
• \Neoplasm and/or hamartoma (disorder)\Neoplastic disease\...
• \Neuroendocrine neoplasm (disorder)\Phaeochromocytoma\Hereditary pheochromocytoma and paraganglioma (disorder)
• \Neuroendocrine neoplasm (disorder)\Paraganglioma\Hereditary pheochromocytoma and paraganglioma (disorder)
• \Neoplastic disease of uncertain behavior\Paraganglioma\Hereditary pheochromocytoma and paraganglioma (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3307259011	Hereditary pheochromocytoma and paraganglioma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307802018	Hereditary pheochromocytoma and paraganglioma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308606015	Hereditary phaeochromocytoma and paraganglioma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401416010	A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401417018	A rare, hereditary, phaeochromocytoma/paraganglioma tumour arising from neuroendocrine chromaffin cells of the adrenal medulla (phaeochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary phaeochromocytoma/paraganglioma tumours tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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Component annotation with string value reference set (foundation metadata concept)

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