| familiaire schildklierdyshormonogenese (aandoening) | | familiaire schildklierdyshormonogenese | | familiaire dyshormonogenese van thyroïd
familiale dyshormonogenese van glandula thyroidea
| | Familial thyroid dyshormonogenesis | | A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goiter. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. |
| | Id | 718183003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E03.1 | | Term | Congenitale hypothyroïdie zonder struma |
|
| SNOMED CT to Orphanet simple map | 95716 |
| SNOMED CT to ICD-10 extended map | | Target | E03.1 | | Rule | TRUE | | Advice | ALWAYS E03.1 | MAPPED FOLLOWING WHO GUIDANCE | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
