| congenitale hypothyreoïdie door mutatie in thyrotropinereceptor (aandoening) | | congenitale hypothyreoïdie door mutatie in thyrotropinereceptor | | aangeboren hypothyroïdie door TSHR-mutatie
congenitale hypothyroïdie door mutatie in TSH-receptor
| | Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation | | Hypothyroidism due to TSHR (thyroid stimulating hormone receptor) mutation
Hypothyroidism due to TSH receptor mutation
| | A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to thyroid stimulating hormone (TSH). Clinical manifestations are those of other forms of congenital hypothyroidism. Goiter is always absent. Caused by mutations in the TSH receptor gene (TSHR, 14q31) resulting in resistance to TSH, which causes a reduction in thyroid hormone production. Mutations in TSHR may also cause thyroid hypoplasia. |
| | Id | 1230272009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 90673 |
| SNOMED CT to ICD-10 extended map | | Target | E05.8 | | Rule | TRUE | | Advice | ALWAYS E05.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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