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
| | An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. |
| 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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