| transmembraaneiwit 94-geassocieerd syndroom van congenitaal hartdefect, faciale dysmorfie en ontwikkelingsachterstand (aandoening) | | transmembraaneiwit 94-geassocieerd syndroom van congenitaal hartdefect, faciale dysmorfie en ontwikkelingsachterstand | | TMEM94-geassocieerd syndroom van aangeboren hartafwijking, faciale dysmorfie en ontwikkelingsachterstand
| | TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome | | Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
| | A rare genetic neurodevelopmental disorder with characteristics of global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip and pointed chin. |
| | Id | 1222708006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 562569 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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