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syndróm trizómie 13

  1. Record numberd000073839
    Date06.06.2025
    TypeM - MESH
    Topical termsyndróm trizómie 13
    Other termSlovak (Pseudonym) syndróm trizómie 13. chromozómu
    Slovak (Pseudonym) Bartholinov-Patauov syndróm
    Slovak (Pseudonym) duplikácia 13. chromozómu
    Slovak (Pseudonym) zdvojenie 13. chromozómu
    Slovak (Pseudonym) syndróm kompletnej trizómie 13
    Slovak (Pseudonym) syndróm mozaikovej trizómie 13
    Slovak (Pseudonym) syndróm mozaikovej formy trizómie 13
    Slovak (Pseudonym) Patauov syndróm
    Slovak (Pseudonym) trizómia 13
    Slovak (Pseudonym) syndrómy trizómie 13
    UDCC10.597.606.360.835C14.240.400.970C14.280.400.970C16.131.077.919C16.131.240.400.965C16.131.260.923C16.320.180.923
    NoteA chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.
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