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

• SNOMED CT Concept\Clinical finding\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3703312013	MITF-related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3703313015	MITF (melanogenesis associated transcription factor) related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3703314014	Melanogenesis associated transcription factor related melanoma and renal cell carcinoma predisposition syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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