| 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
| | This syndrome has characteristics of intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been located to the q12-q21 region of the X chromosome. |
| | 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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