| syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies (aandoening) | | syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies | | syndroom van metafysaire dysostose, verstandelijke beperking en geleidingsgehoorverlies
syndroom van metafysaire dysostose, mentale retardatie en geleidingsgehoorverlies
syndroom van metafysaire dysostose, verstandelijke handicap en geleidingsgehoorverlies
| | Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | | Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. |
| | Id | 733419006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q78.5 | | Term | Metafysaire dysplasie |
| Target | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
| Target | H90.2 | | Term | Gehoorverlies door geleidingsstoornis, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 2502 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.5 | | Rule | TRUE | | Advice | ALWAYS Q78.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | F79.9 | | Rule | TRUE | | Advice | ALWAYS F79.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.2 | | Rule | TRUE | | Advice | ALWAYS H90.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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