syndroom van hemifaciale hyperplasie en strabismus (aandoening) | | syndroom van hemifaciale hyperplasie en strabismus | | syndroom van Bencze syndroom van hemifaciale hyperplasie en strabisme syndroom van hemifaciale hyperplasie en scheelzien
| | Hemifacial hyperplasia strabismus syndrome | | Bencze syndrome
| | A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. |
| Id | 733046006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q67.4 | Term | Overige congenitale misvormingen van schedel, aangezicht en kaak |
|
SNOMED CT to Orphanet simple map | 1241 |
SNOMED CT to ICD-10 extended map | Target | Q67.4 | Rule | TRUE | Advice | ALWAYS Q67.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|