Constitutional mismatch repair deficiency syndrome

Constitutional mismatch repair deficiency syndrome (disorder)

active

Code	`764946008`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20180731

Synonyms

CMMR-D (constitutional mismatch repair deficiency) syndrome

Parents (3)

85995004Autosomal recessive hereditary disorder disorder
699346009Hereditary cancer-predisposing syndrome disorder
58606001Primary immune deficiency disorder disorder

Children (2)

1351576009Autosomal recessive hyperimmunoglobulin M syndrome due to MSH6 deficiency disorder
1356823008Constitutional mismatch repair deficiency syndrome due to PMS2 mutation disorder