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726019003: Familial malignant melanoma of skin (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3447503016 Familial malignant melanoma of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447504010 Familial malignant melanoma of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447505011 Familial cutaneous malignant melanoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403516016 Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403517013 Familial melanoma (FM) is a rare inherited form of melanoma characterised by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447503016 Familial malignant melanoma of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447504010 Familial malignant melanoma of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447505011 Familial cutaneous malignant melanoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3447506012 A rare inherited form of cutaneous melanoma with characteristics of development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. It is thought to account for about 10% of all cases of cutaneous melanoma. Tends to occur earlier than non-familial melanoma. The risk of familial melanoma is closely related to a wide range of genetic alterations in susceptibility genes but also appears to be influenced by phenotypic risk factors, such as pigmentation, freckling and sun reactions. Complex interactions between genetic and environmental factors are therefore thought to underlie the disease. The most common high-penetrance susceptibility gene implicated is CDKN2A, accounting for predisposition in approximately 20% of cases. In some affected families, susceptibility is consistent with autosomal dominant inheritance but in most cases, a polygenic mode of inheritance appears likely. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403516016 Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403517013 Familial melanoma (FM) is a rare inherited form of melanoma characterised by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452621001000117 Melanom, familiäres de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228411000241111 mélanome malin cutané familial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228421000241116 mélanome malin familial de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228411000241111 mélanome malin cutané familial fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6228421000241116 mélanome malin familial de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452621001000117 Melanom, familiäres 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
Familial malignant melanoma of skin Is a Familial neoplastic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial malignant melanoma of skin Is a Malignant melanoma of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Familial malignant melanoma of skin Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial malignant melanoma of skin Associated morphology Malignant melanoma - category false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial malignant melanoma of skin Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial malignant melanoma of skin Associated morphology Malignant melanoma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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