| syndroom van hypogonadisme met mitralisklepprolaps en verstandelijke beperking (aandoening) | | syndroom van hypogonadisme met mitralisklepprolaps en verstandelijke beperking | | Cantalamessa-Baldini-Ambrosi-syndroom
syndroom van hypogenitalisme, mitralisklepprolaps en verstandelijke beperking
syndroom van Cantalamessa-Baldini-Ambrosi
| | Hypogonadism with mitral valve prolapse and intellectual disability syndrome | | Cantalamessa Baldini Ambrosi syndrome
| | Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal. |
| | Id | 721841001 | | 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 |
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| SNOMED CT to Orphanet simple map | 2233 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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