- 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.
- Terms
-
Trisomy 13 Syndrome
Preferred Term
Term UI
T000912162
Date11/28/2016
LexicalTag
NON
ThesaurusID
-
Bartholin-Patau Syndrome
Term UI
T000912164
Date11/28/2016
LexicalTag
EPO
ThesaurusID
-
Chromosome 13 Trisomy Syndrome
Term UI
T000912165
Date11/28/2016
LexicalTag
NON
ThesaurusID
ORD (2010)
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Patau's Syndrome
Term UI
T842612
Date04/18/2013
LexicalTag
EPO
ThesaurusID
-
Trisomy 13 Syndromes
Term UI
T000912161
Date11/28/2016
LexicalTag
NON
ThesaurusID
NLM (2018)
-
Patau Syndrome
Term UI
T000912163
Date11/28/2016
LexicalTag
EPO
ThesaurusID