Preferred Label : Hereditary hyperthyroidism due to mutations in TSH receptor;
ICD-11 definition : Familial hyperthyroidism due to mutations in thyroid stimulating hormone (TSH) receptor
is a hereditary non-autoimmune hyperthyroidism. It is characterized by the presence
of signs and symptoms of hyperthyroidism and diffuse goiter without evidence of an
autoimmune etiology.;
ICD-11 synonym : Hereditary thyrotoxicosis due to mutations in TSH receptor; Familial thyrotoxicosis due to mutations in TSH receptor; Familial hyperthyroidism due to mutations in TSH receptor;
Origin ID : 727171381;
Currated CISMeF NLP mapping
Familial hyperthyroidism due to mutations in thyroid stimulating hormone (TSH) receptor
is a hereditary non-autoimmune hyperthyroidism. It is characterized by the presence
of signs and symptoms of hyperthyroidism and diffuse goiter without evidence of an
autoimmune etiology.
