Catalog

Spondylometaphyseal dysplasia with combined immunodeficiency

No MMS code

Link to WHO Definition

Spondylometaphyseal dysplasia with combined immunodeficiency – http://id.who.int/icd/entity/687261501

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.