| syndromale X-gebonden verstandelijke beperking type 11 (aandoening) | | syndromale X-gebonden verstandelijke beperking type 11 | | syndromale X-gebonden mentale retardatie type 11
X-gebonden verstandelijke handicap type Shashi
| | Syndromic X-linked intellectual disability type 11 | | X-linked intellectual disability Shashi type
| | This syndrome has manifestations of moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome. |
| | Id | 718900002 | | 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 | 85286 |
| 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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