716857003: Hereditary pheochromocytoma and paraganglioma (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary phaeochromocytoma and paraganglioma
• \Neoplasm and/or hamartoma\Neoplastic disease\...
• \Neuroendocrine tumour\Phaeochromocytoma\Hereditary phaeochromocytoma and paraganglioma
• \Neuroendocrine tumour\Paraganglioma\Hereditary phaeochromocytoma and paraganglioma
• \Neoplastic disease of uncertain behaviour\Paraganglioma\Hereditary phaeochromocytoma and paraganglioma

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2356421000168118	Paraganglioma-phaeochromocytoma predisposition syndrome	en	Synonym	Active	Case insensitive	SNOMED Clinical Terms Australian extension
3307259011	Hereditary pheochromocytoma and paraganglioma (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307802018	Hereditary pheochromocytoma and paraganglioma	en	Synonym	Active	Case insensitive	SNOMED CT core
3308606015	Hereditary phaeochromocytoma and paraganglioma	en	Synonym	Active	Case insensitive	SNOMED CT core
3307803011	Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more.	en	Definition	Active	Case sensitive	SNOMED CT core
3308607012	Rare neuroendocrine neoplasms represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and phaeochromocytomas. Can be either hypersecreting (catecholamines) or non-secreting. There are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. Hereditary disease is caused by mutations in the SDHD, SDHC, SDHB, SDHA and SDHAF2 (or SDH5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). Transmission is autosomal dominant. The disease may be fatal, but some have lived with malignant PCC/PGL for 20 years or more.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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