Preferred Label : Recombinant chromosome 8 syndrome;
ICD-11 definition : Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex
chromosomal disorder that is due to a parental pericentric inversion of chromosome
8 and is characterized by major congenital heart anomalies, urogenital malformations,
moderate to severe intellectual deficiency and mild craniofacial dysmorphism.;
ICD-11 synonym : San Luis Valley syndrome; Duplication 8q/deletion 8p; Recombinant 8 syndrome; Rec(8) syndrome;
Origin ID : 1847411826;
UMLS CUI : C0795822;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex
chromosomal disorder that is due to a parental pericentric inversion of chromosome
8 and is characterized by major congenital heart anomalies, urogenital malformations,
moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
