Alpha thalassaemia - intellectual deficit syndrome

Preferred Label : Alpha thalassaemia - intellectual deficit syndrome;

ICD-11 definition : Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin level or mild anemia, associated with developmental abnormalities.;

ICD-11 synonym : 16pter-p13.3 deletion; Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16;

Details

Origin ID

610548858;

Currated CISMeF NLP mapping
- Alpha-Thalassemia mental retardation syndrome, Deletion-Type [MeSH concept]
- Alpha-Thalassemia mental retardation syndrome, Deletion-Type [MeSH Supplementary Concept]
- Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) [SNOMED CT concept]
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 [ORDO Disease]
- Alpha-thalassemia/impaired intellectual development syndrome, deletion type [OMIM Phenotype]

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