| 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
| | A rare constitutional hemolytic anemia that is characterized by 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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