Spondylometaphyseal dysplasia with combined immunodeficiency (Q57461)
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Spondylometaphyseal dysplasia with combined immunodeficiency is characterised by combined immunodeficiency, autoimmunity (that manifests as vitiligo, Crohn's disease, arthritis, thyroiditis, and thrombocytopenia), and spondylometaphyseal dysplasia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_687261501 |
||
| English | Spondylometaphyseal dysplasia with combined immunodeficiency |
Spondylometaphyseal dysplasia with combined immunodeficiency is characterised by combined immunodeficiency, autoimmunity (that manifests as vitiligo, Crohn's disease, arthritis, thyroiditis, and thrombocytopenia), and spondylometaphyseal dysplasia. |
Statements
CID11:ID_687261501
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dki-india-ID_687261501
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Concluído
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13 August 2026
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