770896003: Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703311018	Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703312013	MITF-related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703313015	MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703314014	Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404945019	MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404946018	MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in naevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703311018	Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703312013	MITF-related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703313015	MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703314014	Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703315010	An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF (melanogenesis associated transcription factor) gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777378014	An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF (melanogenesis associated transcription factor) gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in naevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404945019	MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404946018	MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in naevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3384991001000116	MITF-assoziiertes Melanom und Nierenzellkarzinom-Prädispositionssyndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326981000241118	syndrome de prédisposition au CCR (carcinome à cellules rénales) et mélanome associé à MITF (microphtalmia-associated transcription factor)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326991000241116	syndrome de prédisposition au carcinome à cellules rénales et mélanome associé au facteur de transcription associé à la mélanogenèse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326981000241118	syndrome de prédisposition au CCR (carcinome à cellules rénales) et mélanome associé à MITF (microphtalmia-associated transcription factor)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6326991000241116	syndrome de prédisposition au carcinome à cellules rénales et mélanome associé au facteur de transcription associé à la mélanogenèse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384991001000116	MITF-assoziiertes Melanom und Nierenzellkarzinom-Prädispositionssyndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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