| 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
| | This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. |
| | 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 |
|
| SNOMED CT to Orphanet simple map | 2824 |
| SNOMED CT to ICD-10 extended map | | Target | G82.1 | | Rule | TRUE | | Advice | ALWAYS G82.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | F79.9 | | Rule | TRUE | | Advice | ALWAYS F79.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q82.8 | | Rule | TRUE | | Advice | ALWAYS Q82.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
