| X-gebonden syndroom van verstandelijke beperking, macrocefalie en macro-orchidie (aandoening) | | X-gebonden syndroom van verstandelijke beperking, macrocefalie en macro-orchidie | | syndroom van Johnson
X-gebonden syndroom van mentale retardatie, macrocefalie en macro-orchidisme
X-gebonden syndroom van verstandelijke handicap, macrocefalie en macro-orchidisme
| | X-linked intellectual disability, macrocephaly, macroorchidism syndrome | | Johnson syndrome
| | An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities. |
| | Id | 719825000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 85320 |
| 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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