| syndroom van ernstige verstandelijke beperking, kleine gestalte, gedragsstoornis en faciale dysmorfie (aandoening) | | syndroom van ernstige verstandelijke beperking, kleine gestalte, gedragsstoornis en faciale dysmorfie | | syndroom van ernstige verstandelijke handicap, kleine gestalte, gedragsstoornis en faciale dysmorfie
syndroom van ernstige mentale retardatie, kleine gestalte, gedragsstoornis en faciale dysmorfie
| | Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome | | A rare genetic syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition. Caused by homozygous mutation in the TTI2 gene on chromosome 8p12. |
| | Id | 773419004 | | 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 |
|
| SNOMED CT to Orphanet simple map | 391307 |
| 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 |
|
|
