Abnormality of cortisol-binding globulin
Autosomal hereditary disorder
Hereditary disorder of endocrine system
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Corticosteroid-binding globulin deficiency (disorder)
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.
deficiëntie van corticosteroïdbindend globuline
transcortinedeficiëntie
Id773728004
StatusPrimitive
Finding siteAdrenal structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE27.8
RuleTRUE
AdviceALWAYS E27.8
CorrelationSNOMED CT source code to target map code correlation not specified