Hereditary thrombocytopenic disorder

Hereditary thrombocytopenic disorder (disorder)

active

Code	`438492008`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20090131

Parents (2)

234469001Inherited platelet disorder disorder
302215000Thrombocytopenic disorder disorder

Children (21)

720521008Autosomal dominant macrothrombocytopenia disorder
1371053002Autosomal dominant thrombocytopenia due to ETV6 gene mutation disorder
1187252002Autosomal dominant thrombocytopenia with platelet secretion defect disorder
1351778007Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect disorder
1351776006Autosomal recessive combined immunodeficiency due to WIP deficiency disorder
54569005Bernard Soulier syndrome disorder
1208617001Congenital autosomal recessive small-platelet thrombocytopenia disorder
441134009Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type disorder
1172604004DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome disorder
719021005DK phocomelia syndrome disorder
30575002Fanconi's anaemia disorder
1172699002Hereditary thrombocytopenia with early-onset myelofibrosis disorder
783251006Hereditary thrombocytopenia with normal platelets disorder
1172685001Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome disorder
71436005Periodic fever, immunodeficiency, thrombocytopenia syndrome disorder
85589009Radial aplasia-thrombocytopenia syndrome disorder
1187614006Severe autosomal recessive macrothrombocytopenia disorder
733096007Thyrocerebrorenal syndrome disorder
36070007Wiskott-Aldrich syndrome disorder
722475006X-linked congenital dyserythropoietic anaemia with thrombocytopenia disorder
1156838007X-linked thrombocytopaenia with normal platelets disorder