Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.
Synonyms: BSyn
This is just here as a test because I lose it
Term information
database cross reference
- MeSH:D001816 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q82.2 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- ICD-10:Q82.2 (Index term (The ORPHA code is listed in the ICD10 Index))
- UMLS:C0005859 (E (Exact mapping: the two concepts are equivalent))
- OMIM:210900 (E (Exact mapping: the two concepts are equivalent))
Term relations
Subclass of:
- disease
- part_of some Tumor of hematopoietic and lymphoid tissues
- present_in some Worldwide and has_cases/families_value value 300.0
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- has_inheritance some autosomal recessive
- part_of some Malformation syndrome with short stature
- part_of some Polymalformative genetic syndrome with increased risk of developing cancer
- part_of some Genetic malformation syndrome with short stature
- part_of some Genetic photodermatosis
- has_age_of_onset some antenatal
- part_of some Rare photodermatosis
- has_age_of_onset some neonatal
- present_in some Specific population and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 2.08
- part_of some DNA repair defect other than combined T-cell and B-cell immunodeficiencies