| Descriptor English: | Bloom Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Bloom
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| Descriptor Portuguese: | Síndrome de Bloom | ||||||
| Descriptor French: | Syndrome de Bloom | ||||||
| Entry term(s): |
Bloom Torre Machacek Syndrome Bloom's Syndrome Bloom's Syndromes Bloom-Torre-Machacek Syndrome Congenital Telangiectatic Erythema Congenital Telangiectatic Erythemas Erythema, Congenital Telangiectatic Telangiectatic Erythema, Congenital |
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| Tree number(s): |
C16.131.077.137 C16.320.798.313 C18.452.284.100 C20.673.795.313 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D001816 | ||||||
| Scope note: | An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Abnormalities, Multiple (1968-1981) Dwarfism (1966-1981) Facial Dermatoses (1966-1981) Telangiectasis (1966-1981) |
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| Public MeSH Note: | 82 |
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| History Note: | 82 |
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| DeCS ID: | 1841 | ||||||
| Unique ID: | D001816 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1982/01/01 | ||||||
| Date of Entry: | 1981/02/23 | ||||||
| Revision Date: | 2013/07/08 |
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Bloom Syndrome
- Preferred
| Concept UI |
M0002734 |
| Scope note | An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. |
| Preferred term | Bloom Syndrome |
| Entry term(s) |
Bloom Torre Machacek Syndrome Bloom's Syndrome Bloom's Syndromes Bloom-Torre-Machacek Syndrome Congenital Telangiectatic Erythema Congenital Telangiectatic Erythemas Erythema, Congenital Telangiectatic Telangiectatic Erythema, Congenital |
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