A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principle characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia,

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trisomie 20 en mosaïque

SNOMEDCT-BE (in the majority of cases) to a mild, subtle phenotype. Principle characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, / 764624003

SNOMEDCT-BE (disorder) / 764624003

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The absence or dramatic reduction of circulating human serum albumin (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protei

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analbuminémie congénitale

SNOMEDCT-BE (HSA) with less than 50 cases reported in the literature so far. In the majority of cases the disorder is diagnosed in adulthood. Although albumin is the most abundant plasma protei / 718721006

SNOMEDCT-BE (disorder) / 718721006

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Others have searched : beta thalassaemia major cooley syndrome cooley's anemia cooley's syndrome cooley's-disease cooley-lee syndrome dameshek's syndrome mediterranean anemia mediterranean disease chronic familial erythremia controlling interest erythroblastic anemia hereditary leptocytosis major classification major division major subdivision majority control majority holding majority interest majority ownership majority shareholding majority stake primary erythroblastic anemia target cell anemia target-oval cell syndrome thalassaemia thalassaemia major thalassanemia thalassemia thalassemia major thalassemic syndrome

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'thalassaemia major'

Date index:2024-04-23 -

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Translation of "thalassaemia major " (English → French) :

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