| syndroom van alopecia, epilepsie, pyorroe en verstandelijke beperking (aandoening) | | syndroom van alopecia, epilepsie, pyorroe en verstandelijke beperking | | syndroom van Shokeir
syndroom van alopecia, epilepsie, pyorroe en mentale retardatie
syndroom van alopecia, epilepsie, pyorroe en verstandelijke handicap
Shokeir-syndroom
syndroom van alopecia, epilepsie, pyorroe en intellectuele achterstand
| | Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome | | Shokeir syndrome
| | Syndrome characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhea. Total permanent alopecia and periodontal pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. |
| | Id | 720980004 | | 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 | 1008 |
| 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 |
|
|
