| syndroom van polyneuropathie, verstandelijke beperking, brachydactylie en vroegtijdige menopauze (aandoening) | | syndroom van polyneuropathie, verstandelijke beperking, brachydactylie en vroegtijdige menopauze | | syndroom van polyneuropathie, mentale retardatie, brachydactylie en vroegtijdige menopauze
syndroom van Lundberg
syndroom van polyneuropathie, verstandelijke handicap, acromicrie en vroegtijdige menopauze
Lundberg-syndroom
| | Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome | | Lundberg syndrome
| | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. |
| | Id | 770679002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2928 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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