| syndroom van stijve digitus I, brachydactylie en verstandelijke beperking (aandoening) | | syndroom van stijve digitus I, brachydactylie en verstandelijke beperking | | syndroom van Piussan-Lenaerts-Mathieu
syndroom van stijve duim, brachydactylie en mentale retardatie
syndroom van stijve duim, brachydactylie en verstandelijke handicap
syndroom van stijve duim, brachydactylie en verstandelijke beperking
| | Thumb stiffness, brachydactyly, intellectual disability syndrome | | Piussan Lenaerts Mathieu syndrome
| | A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990. |
| | Id | 733117001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.2 | | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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| SNOMED CT to Orphanet simple map | 1078 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | 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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