bloom syndrome

Preferred Label : bloom syndrome;

MeSH definition : 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.;

MeSH synonym : bloom torre machacek syndrome; bloom-torre-machacek syndrome; congenital telangiectatic erythema; bloom's syndrome; Bloom's Syndromes; Congenital Telangiectatic Erythemas; Erythema, Congenital Telangiectatic; Telangiectatic Erythema, Congenital;

CISMeF synonym : syndrome, bloom; syndrome, bloom-torre-machacek;

Details

Origin ID

D001816;

UMLS CUI

C0005859;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- BLM Gene [NCIt concept]
Currated CISMeF NLP mapping
- Bloom Syndrome [NCIt concept]
- Bloom syndrome [MedDRA Preferred Term]
- Bloom syndrome [PASCAL descriptor]
- Bloom syndrome [DO Concept]
- Bloom syndrome [Disease (Nov.)]
- Bloom syndrome [ICD-11 More detail]
- Bloom syndrome [OMIM Phenotype]
- Bloom syndrome [ORDO Disease]
- Bloom syndrome (disorder) [SNOMED CT concept]
- bloom syndrome [SNOMED Notion]
DO Cross reference
- Bloom syndrome [DO Concept]
Indexing information
- RMI1 protein, human [MeSH Supplementary Concept]
- bloom syndrome protein [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies [ORDO Disease]
- Ectodermal malformation syndrome associated with ocular features [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Genetic photodermatosis [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare photodermatosis [ORDO Disease]
- Tumor of hematopoietic and lymphoid tissues [ORDO Disease]
ORDO relation(s)
- Bloom syndrome [ORDO Disease]
Record concept(s)
- bloom syndrome [MeSH concept]
See also
- RecQ helicases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bloom Syndrome [NCIt concept]
- Bloom syndrome [MedDRA Preferred Term]
- Bloom syndrome [OMIM Phenotype]
- Bloom syndrome [ORDO Disease]
- Bloom syndrome [DO Concept]
- Bloom syndrome [PASCAL descriptor]
- Bloom syndrome [Disease (Nov.)]
- Bloom syndrome [ICD-11 More detail]
- Bloom syndrome (disorder) [SNOMED CT concept]
- Congenital telangiectatic erythema [MedDRA LLT]
- bloom syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital telangiectatic erythema [MedDRA LLT]

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