loading...| Preferred Name |
Hereditary leiomyomatosis and renal cell carcinoma |
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| Synonyms |
HLRCC - hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis with renal carcinoma Hereditary leiomyomatosis and renal cell carcinoma (disorder) Hereditary leiomyomatosis and renal cell cancer Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis with renal carcinoma |
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| Definitions |
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. 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. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/1162799008 |
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| Active |
1 |
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| altLabel |
HLRCC - hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis with renal carcinoma Hereditary leiomyomatosis and renal cell carcinoma (disorder) Hereditary leiomyomatosis and renal cell cancer Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis with renal carcinoma |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
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| CTV3ID |
XVGTr |
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| cui |
C1708350 |
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| definition |
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. 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. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20210930 |
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| Has associated morphology | ||
| Has finding site | ||
| notation |
1162799008 |
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| prefLabel |
Hereditary leiomyomatosis and renal cell carcinoma |
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| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPTARGET~D21.9 6011000124106~MAPADVICE~ALWAYS C64.9 | CONSIDER LATERALITY SPECIFICATION 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~D23.9 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~ALWAYS D21.9 | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE 6011000124106~MAPPRIORITY~1 900000000000497000~MAPTARGET~XVGTr 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS D23.9 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPTARGET~C64.9 |
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| tui |
T191 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/699346009 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 |