| syndroom van hypertrichose, kleine gestalte, faciale dysmorfie en ontwikkelingsachterstand (aandoening) | | syndroom van hypertrichose, kleine gestalte, faciale dysmorfie en ontwikkelingsachterstand | | syndroom van Wiedemann-Steiner
| | Wiedemann Steiner syndrome | | Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome
| | A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. |
| | Id | 763618001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.5 | | Term | Overige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen |
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| SNOMED CT to Orphanet simple map | 319182 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | 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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