| X-gebonden syndroom van verstandelijke beperking, dysmorfie en cerebrale atrofie (aandoening) | | X-gebonden syndroom van verstandelijke beperking, dysmorfie en cerebrale atrofie | | X-gebonden syndroom van verstandelijke handicap, dysmorfie en cerebrale atrofie
syndroom van Prieto-Badia-Mulas
X-gebonden syndroom van mentale retardatie, dysmorfie en cerebrale atrofie
| | Prieto Badia Mulas syndrome | | X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
| | This syndrome has characteristics of intellectual deficit associated with facial dysmorphism, patella luxation and abnormal growth of the teeth. It has been described in eight males from multiple generations of one family. The locus for the causative gene for this syndrome has been located to the region between p11.22 and p21.1 on the X chromosome. |
| | Id | 719140001 | | 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 | 2958 |
| 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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