| syndroom van verstandelijke beperking, kleine gestalte en hypertelorisme (aandoening) | | syndroom van verstandelijke beperking, kleine gestalte en hypertelorisme | | syndroom van Stoll-Géraudel-Chauvin
syndroom van verstandelijke handicap, kleine lengte en hypertelorisme
Stoll-Géraudel-Chauvin-syndroom
| | Intellectual disability, short stature, hypertelorism syndrome | | Stoll Geraudel Chauvin syndrome
| | Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991. |
| | Id | 771077007 | | 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 | 3074 |
| 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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