| X-gebonden syndroom van verstandelijke beperking, hypogammaglobulinemie en progressieve neurologische uitval (aandoening) | | X-gebonden syndroom van verstandelijke beperking, hypogammaglobulinemie en progressieve neurologische uitval | | X-gebonden syndroom van mentale retardatie, hypogammaglobulinemie en progressieve neurologische uitval
X-gebonden syndroom van verstandelijke handicap, hypogammaglobulinemie en progressieve neurologische uitval
| | X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome | | This syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. |
| | Id | 719156006 | | 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 | 85317 |
| 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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