autosomaal dominante spastische paraplegie type 29 (aandoening) | | autosomaal dominante spastische paraplegie type 29 | | SPG29
| | Autosomal dominant spastic paraplegia type 29 | | A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1. |
| Id | 733029008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G11.4 | Term | Hereditaire spastische paraplegie |
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SNOMED CT to Orphanet simple map | 101009 |
SNOMED CT to ICD-10 extended map | Target | G11.4 | Rule | TRUE | Advice | ALWAYS G11.4 | 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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