Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome

Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder)

active

Code	`1177173001`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20211031

Synonyms

MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency
MYSM1 deficiency

Parents (4)

782964007Genetic disease disorder
254067002Immuno-osseous dysplasia disorder
82354003Multiple system malformation syndrome disorder
1260268001Myelodysplastic syndrome with low blasts disorder

Children (0)

None (leaf concept).