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deficiëntie van corticosteroïdbindend globuline (aandoening)
deficiëntie van corticosteroïdbindend globuline
transcortinedeficiëntie
Corticosteroid-binding globulin deficiency
Transcortin deficiency
A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.
Id773728004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE27.8
RuleTRUE
AdviceALWAYS E27.8
CorrelationSNOMED CT source code to target map code correlation not specified