| X-gebonden syndroom van verstandelijke beperking en hypoplasie van cerebellum (aandoening) | | X-gebonden syndroom van verstandelijke beperking en hypoplasie van cerebellum | | X-gebonden syndroom van mentale retardatie en hypoplasie van cerebellum
Oligophrenin-1-syndroom
X-gebonden syndroom van verstandelijke handicap en hypoplasie van cerebellum
OPHN1-syndroom
| | X-linked intellectual disability with cerebellar hypoplasia syndrome | | Oligophrenin-1 syndrome
OPHN1 syndrome
| | X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. |
| | Id | 719136005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q04.3 | | Term | Overige onderontwikkeling van hersenen |
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| SNOMED CT to ICD-10 extended map | | Target | Q04.3 | | Rule | TRUE | | Advice | ALWAYS Q04.3 | 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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