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1162799008: Hereditary leiomyomatosis and renal cell carcinoma (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4591491016 HLRCC - hereditary leiomyomatosis and renal cell cancer en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591492011 Familial leiomyomatosis with renal carcinoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591493018 Hereditary leiomyomatosis with renal carcinoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591496014 Familial leiomyomatosis and renal cell cancer en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591503013 Hereditary leiomyomatosis and renal cell carcinoma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591504019 Hereditary leiomyomatosis and renal cell carcinoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591505018 Hereditary leiomyomatosis and renal cell cancer en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399271014 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399272019 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterised by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591491016 HLRCC - hereditary leiomyomatosis and renal cell cancer en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591492011 Familial leiomyomatosis with renal carcinoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591493018 Hereditary leiomyomatosis with renal carcinoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591496014 Familial leiomyomatosis and renal cell cancer en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591503013 Hereditary leiomyomatosis and renal cell carcinoma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591504019 Hereditary leiomyomatosis and renal cell carcinoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591505018 Hereditary leiomyomatosis and renal cell cancer en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591499019 A hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolizes the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591500011 A hereditary cancer syndrome characterised by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolises the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399271014 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399272019 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterised by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3419601001000113 Hereditäre Leiomyomatose mit Nierenzellkrebs de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6307391000241114 syndrome de Reed fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6307401000241112 léiomyomatose familiale et carcinome à cellules rénales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6307411000241114 HLRCC - hereditary leiomyomatosis and renal cell carcinoma fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6307421000241119 léiomyomatose héréditaire et hypernéphrome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6307391000241114 syndrome de Reed fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6307401000241112 léiomyomatose familiale et carcinome à cellules rénales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6307411000241114 HLRCC - hereditary leiomyomatosis and renal cell carcinoma fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6307421000241119 léiomyomatose héréditaire et hypernéphrome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419601001000113 Hereditäre Leiomyomatose mit Nierenzellkrebs 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
Hereditary leiomyomatosis and renal cell carcinoma Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary leiomyomatosis and renal cell carcinoma Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary leiomyomatosis and renal cell carcinoma Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary leiomyomatosis and renal cell carcinoma Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary leiomyomatosis and renal cell carcinoma Is a Cutaneous leiomyoma true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary leiomyomatosis and renal cell carcinoma Associated morphology Leiomyoma (morphologic abnormality) 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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