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resistentie tegen schildklierhormoon door mutatie van schildklierhormoonreceptor-bèta (aandoening)
resistentie tegen schildklierhormoon door mutatie van schildklierhormoonreceptor-bèta
resistentie tegen schildklierhormoon door THRB-mutatie
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta
Resistance to thyroid hormone due to mutation in TRb
Resistance to thyroid hormone beta
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action and a highly variable clinical phenotype. The phenotype most commonly includes goiter, resting tachycardia, osteoporosis, short stature and attention deficit disorder. Some patients may be entirely asymptomatic.
Id1260241001
StatusPrimitive
SNOMED CT to Orphanet simple map566243
SNOMED CT to ICD-10 extended map
TargetE07.8
RuleTRUE
AdviceALWAYS E07.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified