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hyperandrogenisme door cortisonreductasedeficiƫntie (aandoening)
hyperandrogenisme door cortisonreductasedeficiƫntie
hyperandrogenisme door deficiƫntie van cortisonreductase
Hyperandrogenism due to cortisone reductase deficiency
11-beta-hydroxysteroid dehydrogenase deficiency type 1
A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.
Id783696009
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE25.8
TermOverige gespecificeerde adrenogenitale aandoeningen
SNOMED CT to Orphanet simple map168588
SNOMED CT to ICD-10 extended map
TargetE25.8
RuleTRUE
AdviceALWAYS E25.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified