| X-gebonden syndroom van verstandelijke beperking, spasticiteit van extremiteit, retinadystrofie en diabetes insipidus (aandoening) | | X-gebonden syndroom van verstandelijke beperking, spasticiteit van extremiteit, retinadystrofie en diabetes insipidus | | X-gebonden syndroom van mentale retardatie, spasticiteit van extremiteit, retinadystrofie en diabetes insipidus
X-gebonden syndroom van verstandelijke handicap, spasticiteit van extremiteit, retinadystrofie en diabetes insipidus
| | X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome | | A rare genetic neurometabolic disease with characteristics of severe intellectual disability, spastic quadriparesis, Leber congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter) described on magnetic resonance imaging have been reported. High prenatal alpha fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. |
| | Id | 732246009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E79.8 | | Term | Overige gespecificeerde stoornissen van purine- en pyrimidinemetabolisme |
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| SNOMED CT to Orphanet simple map | 423479 |
| SNOMED CT to ICD-10 extended map | | Target | E79.8 | | Rule | TRUE | | Advice | ALWAYS E79.8 | 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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