| syndroom van hypoparathyreoïdie, doofheid en nierziekte (aandoening) | | syndroom van hypoparathyreoïdie, doofheid en nierziekte | | syndroom van Barakat
HDR-syndroom
Barakat-syndroom
syndroom van hypoparathyroïdie, perceptief gehoorverlies en nefropathie
| | Hypoparathyroidism, deafness, renal disease syndrome | | HDR (hypoparathyroidism, sensorineural deafness, renal disease) syndrome
Barakat syndrome
HDR syndrome
| | Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). |
| | Id | 724282009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
|
| SNOMED CT to Orphanet simple map | 2237 |
| SNOMED CT to ICD-10 extended map | | Target | E20.8 | | Rule | TRUE | | Advice | ALWAYS E20.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | N07.9 | | Rule | TRUE | | Advice | ALWAYS N07.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
