| syndroom van spastische paraplegie, verstandelijke beperking en palmoplantaire keratodermie (aandoening) | | syndroom van spastische paraplegie, verstandelijke beperking en palmoplantaire keratodermie | | syndroom van spastische paraplegie, verstandelijke handicap en palmoplantaire keratodermie
syndroom van spastische paraplegie, mentale retardatie en palmoplantaire keratodermie
syndroom van Fitzsimmons-McLachlan-Gilbert
| | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome | | Fitzsimmons McLachlan Gilbert syndrome
| | A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
| | Id | 722209002 | | 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 | F79.9 | | Term | Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen |
| Target | Q82.8 | | Term | Overige gespecificeerde congenitale misvormingen van huid |
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| SNOMED CT to Orphanet simple map | 2824 |
| SNOMED CT to ICD-10 extended map | | Target | G82.1 | | Rule | TRUE | | Advice | ALWAYS G82.1 | 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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