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716857003: Hereditary pheochromocytoma and paraganglioma (disorder)

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

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
3307259011 Hereditary pheochromocytoma and paraganglioma (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (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
3437311001000119 Phäochromozytom-Paragangliom-Syndrom, hereditäres de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6016031000241112 phéochromocytome et paragangliome héréditaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6016031000241112 phéochromocytome et paragangliome héréditaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437311001000119 Phäochromozytom-Paragangliom-Syndrom, hereditäres de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Associated morphology Paraganglioma true Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Associated morphology Pheochromocytoma true Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a Paraganglioma (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a Pheochromocytoma (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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