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Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency
Primary immunodeficiency due to MCM4 deficiency
Primary immunodeficiency due to MCM4 (mini-chromosome maintenance complex component 4) deficiency
Syndrome with characteristics of a specific natural-killer cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene is within a 12-Mb region on chromosome 8p11.23-q11.21.
primaire immunodeficiëntie met deficiëntie van 'natural killer'-cellen en bijnierinsufficiëntie
primaire immuundeficiëntie met deficiëntie van 'natural killer'-cellen en bijnierinsufficiëntie
primaire immuundeficiëntie door MCM4-deficiëntie
primaire immunodeficiëntie met NK-celdeficiëntie en adrenale insufficiëntie
Id724275005
StatusPrimitive
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE27.4
RuleTRUE
AdviceALWAYS E27.4
CorrelationSNOMED CT source code to target map code correlation not specified