Preferred Label : Bloom syndrome;
ICD-11 definition : Bloom syndrome is a rare autosomal recessive disorder belonging to a group of chromosomal
breakage syndromes, and is characterized by marked genetic instability, including
a high level of sister chromatid exchanges, associated with a greatly increased predisposition
to a wide range of cancers commonly affecting the general population. The constant
clinical features of BS are proportionate pre- and postnatal growth retardation and
cancer predisposition. Additional clinical features include dolichocephaly, facial
sun-sensitive telangiectatic erythema, patchy areas of hyper- and hypopigmentation
of the skin and moderate to severe immunodeficiency manifested by recurrent respiratory
tract and gastrointestinal infections.;
ICD-11 synonym : Bloom Machacek syndrome; Bloom-Torre-Machacek syndrome;
Origin ID : 1838213890;
UMLS CUI : C0005859;
Currated CISMeF NLP mapping
- Semantic type(s)
Bloom syndrome is a rare autosomal recessive disorder belonging to a group of chromosomal
breakage syndromes, and is characterized by marked genetic instability, including
a high level of sister chromatid exchanges, associated with a greatly increased predisposition
to a wide range of cancers commonly affecting the general population. The constant
clinical features of BS are proportionate pre- and postnatal growth retardation and
cancer predisposition. Additional clinical features include dolichocephaly, facial
sun-sensitive telangiectatic erythema, patchy areas of hyper- and hypopigmentation
of the skin and moderate to severe immunodeficiency manifested by recurrent respiratory
tract and gastrointestinal infections.
