| 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 TSH. |
| | Id | 1230272009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 90673 |
| SNOMED CT to ICD-10 extended map | | Target | E03.1 | | Rule | TRUE | | Advice | ALWAYS E03.1 | 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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