| neuroacanthocytosesyndroom van McLeod (aandoening) | | neuroacanthocytosesyndroom van McLeod | | X-gebonden syndroom van McLeod
| | McLeod neuroacanthocytosis syndrome | | X-linked McLeod syndrome
| | A form of neuroacanthocytosis with clinical characteristics of a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. The disorder is very rare and a few hundred cases are suspected worldwide. About one third of patients present with chorea indistinguishable from that observed in Huntington disease and most patients will develop chorea during the course of the disease. Caused by mutations of the XK gene (Xp21.1) encoding the XK protein, which includes the Kx erythrocyte antigen. Most pathogenic mutations are nonsense mutations or deletions predicting an absent or shortened XK protein lacking the Kell protein-binding site. |
| | Id | 724172004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G10 | | Term | Ziekte van Huntington |
| Target | E78.6 | | Term | Lipoproteïnedeficiëntie |
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| SNOMED CT to Orphanet simple map | 59306 |
| SNOMED CT to ICD-10 extended map | | Target | G10 | | Rule | TRUE | | Advice | ALWAYS G10 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E78.6 | | Rule | TRUE | | Advice | ALWAYS E78.6 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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