| syndroom van spastische paraplegie, neuropathie en poikilodermie (aandoening) | | syndroom van spastische paraplegie, neuropathie en poikilodermie | | Spastic paraplegia, neuropathy, poikiloderma syndrome | | Antinolo Nieto Borrego syndrome
| | A complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. |
| | Id | 763402002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G82.1 | | Term | Hypertone paraplegie |
| Target | G60.8 | | Term | Overige gespecificeerde hereditaire en idiopathische neuropathieën |
| Target | L81.8 | | Term | Overige gespecificeerde pigmentatiestoornissen |
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| SNOMED CT to Orphanet simple map | 2821 |
| 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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