| tumornecrosefactorreceptor-geassocieerde factor 7-geassocieerd syndroom van hartdefect, digitale afwijkingen, faciale dysmorfie en motorische en spraakachterstand (aandoening) | | tumornecrosefactorreceptor-geassocieerde factor 7-geassocieerd syndroom van hartdefect, digitale afwijkingen, faciale dysmorfie en motorische en spraakachterstand | | TNF-R-geassocieerde factor 7-geassocieerd syndroom van hartdefect, digitale afwijkingen, faciale dysmorfie en motorische en spraakachterstand
TRAF7-geassocieerd syndroom van hartafwijking, digitale anomalieën, faciale dysmorfie en motorische en spraakachterstand
| | TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome | | Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper or hypotonia, seizures, hearing loss, cortical blindness and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. |
| | Id | 1208998007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 592570 |
| 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 |
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