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Descriptor English: Trisomy 13 Syndrome
Descriptor Spanish: Síndrome de la Trisomía 13
Descriptor síndrome de la trisomía 13
Entry term(s) duplicación del cromosoma 13
síndrome de Bartholin-Patau
síndrome de Patau
síndrome de la trisomía D
síndrome de la trisomía completa del cromosoma 13
síndrome de la trisomía del cromosoma 13
síndrome de la trisomía en mosaico del cromosoma 13
síndromes de la trisomía 13
trisomía 13
trisomía D
Scope note: Trastorno cromosómico asociado a una TRISOMÍA total o parcial del CROMOSOMA 13. Entre sus manifestaciones clínicas cabe incluir: CARDIOPATÍAS CONGÉNITAS (por ej., PERSISTENCIA DEL CONDUCTO ARTERIOSO), malformaciones faciales (por ej., LABIO LEPORINO, FISURA DEL PALADAR, COLOBOMA, MICROFTALMIA), HIPOTONÍA, malformaciones de los dedos (por ej., POLIDACTILIA o SINDACTILIA) y CONVULSIONES y DISCAPACIDAD INTELECTUAL grave asociadas con MALFORMACIONES DEL SISTEMA NERVIOSO.
Descriptor Portuguese: Síndrome da Trissomia do Cromossomo 13
Descriptor French: Syndrome de Patau
Entry term(s): Bartholin Patau Syndrome
Bartholin-Patau Syndrome
Chromosome 13 Duplication
Chromosome 13 Duplications
Chromosome 13 Trisomy Syndrome
Complete Trisomy 13 Syndrome
Duplication, Chromosome 13
Mosaic Trisomy 13 Syndrome
Patau Syndrome
Patau's Syndrome
Pataus Syndrome
Trisomy 13
Trisomy 13 Syndromes
Tree number(s): C10.597.606.360.835
C14.240.400.970
C14.280.400.970
C16.131.077.919
C16.131.240.400.965
C16.131.260.923
C16.320.180.923
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000073839
Scope note: A 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: PM 2018; TRISOMY 13 SYNDROME was indexed under TRISOMY; CHROMOSOMES, HUMAN, PAIR 13; and CHROMOSOME DISORDERS 2010-2017
History Note: 2018(2010)
DeCS ID: 56947
Unique ID: D000073839
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2018/01/01
Date of Entry: 2017/07/11
Revision Date: 2018/06/30
Trisomy 13 Syndrome - Preferred
Concept UI M000624069
Scope note A 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.
Preferred term Trisomy 13 Syndrome
Entry term(s) Bartholin Patau Syndrome
Bartholin-Patau Syndrome
Chromosome 13 Trisomy Syndrome
Patau Syndrome
Patau's Syndrome
Pataus Syndrome
Trisomy 13 Syndromes
Chromosome 13 Duplication - Narrower
Concept UI M0537178
Preferred term Chromosome 13 Duplication
Entry term(s) Chromosome 13 Duplications
Duplication, Chromosome 13
Trisomy 13
Complete Trisomy 13 Syndrome - Narrower
Concept UI M000624070
Preferred term Complete Trisomy 13 Syndrome
Mosaic Trisomy 13 Syndrome - Narrower
Concept UI M000624071
Preferred term Mosaic Trisomy 13 Syndrome



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