| 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 | | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum. |
| | 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 |
|
| 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 |
|
|
