| autosomaal recessieve spastische paraplegie type 23 (aandoening) | | autosomaal recessieve spastische paraplegie type 23 | | syndroom van Lison
SPG23
| | Autosomal recessive spastic paraplegia type 23 | | Spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome
Lison syndrome
| | A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. |
| | Id | 726608002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 101003 |
| 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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