| syndroom van ernstige verstandelijke beperking, taalachterstand, strabismus, grimasseren en lange vingers (aandoening) | | syndroom van ernstige verstandelijke beperking, taalachterstand, strabismus, grimasseren en lange vingers | | syndroom van ernstige verstandelijke handicap, taalachterstand, scheelzien, grimasseren en lange vingers
syndroom van ernstige mentale retardatie, taalachterstand, strabisme, grimasseren en lange vingers
syndroom van ernstige verstandelijke beperking, taalachterstand, strabisme, grimasseren en lange vingers
| | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome | | A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. |
| | Id | 773551001 | | 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 | 363686 |
| 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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