| moyamoyasyndroom met vroeg optredende achalasie (aandoening) | | moyamoyasyndroom met vroeg optredende achalasie | | Moyamoya disease with early onset achalasia | | An exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It has characteristics of the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with Moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon and livedo reticularis. |
| | Id | 718551002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | I67.5 | | Term | Mojamoja-ziekte |
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| SNOMED CT to Orphanet simple map | 401945 |
| SNOMED CT to ICD-10 extended map | | Target | I67.5 | | Rule | TRUE | | Advice | ALWAYS I67.5 | 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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