| syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke beperking (aandoening) | | syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke beperking | | syndroom van afonie, doofheid, retinadystrofie, bifide hallux en mentale retardatie
syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke handicap
| | Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome | | Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome
Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. |
| | Id | 773583007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 324540 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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