| Alport-syndroom met verstandelijke beperking, hypoplasie van middengezicht en elliptocytose (aandoening) | | Alport-syndroom met verstandelijke beperking, hypoplasie van middengezicht en elliptocytose | | syndroom van Alport met mentale retardatie, hypoplasie van middengezicht en elliptocytose
syndroom van Alport met verstandelijke handicap, hypoplasie van middengezicht en elliptocytose
AMME-syndroom
ATS-MR
AMME-complex
| | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | | AMME complex
AMME syndrome
| | This syndrome has characteristics of the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
| | Id | 720982007 | | 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 | 86818 |
| 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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