| X-gebonden syndroom van verstandelijke beperking, algehele ontwikkelingsachterstand, faciale dysmorfie en sacraal caudaal restant (aandoening) | | X-gebonden syndroom van verstandelijke beperking, algehele ontwikkelingsachterstand, faciale dysmorfie en sacraal caudaal restant | | X-gebonden syndroom van verstandelijke handicap, algehele ontwikkelingsachterstand, faciale dysmorfie en sacraal caudaal restant
X-gebonden syndroom van mentale retardatie, algehele ontwikkelingsachterstand, faciale dysmorfie en sacraal caudaal restant
| | X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome | | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, growth retardation, hearing impairment, characteristic facial dysmorphology (including prominent supraorbital ridges, downslanting palpebral fissures, deep-set eyes, long face, sagging cheeks, anteverted nares, and pointed chin), generalized hypotonia, joint hypermobility, gluteal crease with sacral caudal remnant and sacral dimple, and variable neurological features. Various ophthalmic, cutaneous, musculoskeletal, gastrointestinal and cardiovascular anomalies have also been described. The disorder is caused by pathogenic mutations in the TAF1 gene (Xq13.1). The pattern of inheritance is X-linked. |
| | Id | 1237420004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 480907 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
