Galloway-Mowat-syndroom (aandoening) | | Galloway-Mowat-syndroom | | syndroom van Galloway-Mowat syndroom van microcefalie, hiatushernia en nefrose Galloway-syndroom syndroom van microcefalie, hernia hiatus oesophagei en nefrose
| | Galloway Mowat syndrome | | Nephrosis, neuronal dysmigration syndrome Microcephaly, hiatus hernia, nephrotic syndrome Galloway syndrome
| | A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. |
| Id | 721297008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q04.3 | Term | Overige onderontwikkeling van hersenen |
Target | N04.9 | Term | Nefrotisch syndroom; niet gespecificeerd |
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SNOMED CT to Orphanet simple map | 2065 |
SNOMED CT to ICD-10 extended map | Target | Q04.3 | Rule | TRUE | Advice | ALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | N04.9 | Rule | TRUE | Advice | ALWAYS N04.9 | 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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