699346009: Hereditary cancer-predisposing syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2983926014 Hereditary neoplastic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2988878014 Hereditary cancer-predisposing syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2988939011 Hereditary cancer-predisposing syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1084151000241111 syndrome familial avec prédisposition aux cancers fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1084161000241114 syndrome néoplasique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1085501000241118 syndrome héréditaire de prédisposition aux cancers fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary cancer-predisposing syndrome	Is a	Hereditary disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
At increased risk of hereditary cancer-predisposing syndrome (finding)	This attribute specifies the realization of a function	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some	2
Diaphyseal medullary stenosis with bone malignancy (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. The kidney tumors range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterized by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma. Other characteristic skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations usually develop in the third and fourth decades of life and persist indefinitely. The syndrome is transmitted in an autosomal dominant fashion.	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors.	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
Hereditary well-differentiated neuroendocrine tumor of small intestine (disorder)	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.	Is a	True	Hereditary cancer-predisposing syndrome	Inferred relationship	Some

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