| syndroom van verstandelijke beperking, alacrimie en achalasie (aandoening) | | syndroom van verstandelijke beperking, alacrimie en achalasie | | syndroom van verstandelijke handicap, alacrimie en achalasie
syndroom van mentale retardatie, alacrimie en achalasie
| | Intellectual disability, alacrima, achalasia syndrome | | Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome but differs by the presence of intellectual disability in all affected individuals. |
| | Id | 763741001 | | 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 |
|
| SNOMED CT to Orphanet simple map | 289483 |
| SNOMED CT to ICD-10 extended map | | Target | F83 | | Rule | TRUE | | Advice | ALWAYS F83 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q10.6 | | Rule | TRUE | | Advice | ALWAYS Q10.6 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
