| syndroom van moyamoya-angiopathie, kleine gestalte, faciale dysmorfie en hypergonadotroop hypogonadisme (aandoening) | | syndroom van moyamoya-angiopathie, kleine gestalte, faciale dysmorfie en hypergonadotroop hypogonadisme | | moyamoya-angiopathie-kleine gestalte-faciale dysmorfie-hypergonadotroop hypogonadisme-syndroom
| | Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome | | Moyamoya disease, short stature, facial dysmorphism, hypergonadotropic hypogonadism
| | Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
| | Id | 724097003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | I67.5 | | Term | Mojamoja-ziekte |
| Target | E34.3 | | Term | Kleine gestalte, niet elders geclassificeerd |
| Target | Q18.9 | | Term | Congenitale misvorming van aangezicht en hals, niet gespecificeerd |
| Target | E23.0 | | Term | Hypopituïtarisme |
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| SNOMED CT to Orphanet simple map | 280679 |
| 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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