Recombinant chromosome 8 syndrome (Q56302): Difference between revisions

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Síndrome 8 recombinante (rec (8)), também conhecida como síndrome do Vale de San Luis, é um transtorno cromossômico complexo que se deve a uma inversão pericêntrica parental do cromossomo 8 e é caracterizada por importantes anomalias cardíacas congênitas, malformações urogenitais, deficiência intelectual moderada a grave e dismorfismo craniofacial leve.
description / endescription / en
 
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 characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
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Property / Canonical URI: https://id.who.int/icd/entity/1847411826 / rank
 
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CID11:ID_1847411826
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dki-india-ID_1847411826
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Concluído
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Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank
 
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13 August 2026
Timestamp+2026-08-13T00:00:00Z
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Precision1 day
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Property / Collection date: 13 August 2026 / rank
 
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Latest revision as of 03:58, 14 August 2026

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 characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
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ID_1847411826
    English
    Recombinant chromosome 8 syndrome
    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 characterised by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.

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      CID11:ID_1847411826
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      dki-india-ID_1847411826
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      Concluído
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      13 August 2026
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