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Patau syndrome (CUI C0152095) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0152095

NCI Thesaurus Code: C101223  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.

GARD Definition: Trisomy 13, also called Patau syndrome, is a genetic disorder in which all or a portion of chromosome 13 appears three times (a trisomy) rather than twice in cells of the body. In some affected people, only a portion of cells may contain the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosomal pair. Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as heart defects; brain or spinal cord abnormalities; very small or poorly developed eyes (microphthalmia); extra fingers or toes; cleft lip with or without cleft palate; and weak muscle tone (hypotonia). Most cases are not inherited and result from random errors during the formation of eggs or sperm in healthy parents. Due to various life-threatening medical problems, many infants with trisomy 13 do not survive past the first days or weeks of life. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
+13
Bartholin-Patau syndrome
Chromosome 13 trisomy syndrome
Chromosome 13 trisomy
Chromosome 13, trisomy 13 complete
Complete trisomy 13 syndrome (disorder)
Complete trisomy 13 syndrome
D trisomy syndrome (formerly)
D1 trisomy syndrome
D1 Trisomy
D<sub>1</sub> trisomy syndrome
D>1< trisomy syndrome
Patau syndrome
Patau's syndrome, unspecified
Patau's syndrome
Trisomy 13 (morphologic abnormality)
Trisomy 13 syndrome
Trisomy 13, unspecified
trisomy 13

External Source Codes: 
NCI Thesaurus Code C101223 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
Axis H_CHR_ANUPDY CBO
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PJ1.. SNOMEDCT_US
CTV3ID XUyho SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 5232 GARD
DISEASE_IDENTIFIER_ID 5233 GARD
DISEASE_IDENTIFIER_ID 5234 GARD
DISEASE_IDENTIFIER_ID 5235 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20180131 SNOMEDCT_US
FR 201 MSH
HAS_GARD_PAGE true GARD
HM D002882 MSH
HM D014314 MSH
HM D025063 MSH
IAN DEFAULT ICD10
ICE Trisomy: ICD9CM
IDENTIFIER_TYPE_ID 1 GARD
Initial_Release 2005.10 CBO
Initial_Release 2007.12 CBO
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-10-12T00:00:00 GARD
MDA 20100825 MSH
MMR 20150818 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NICHD_Hierarchy_Term Complete Trisomy 13 Syndrome NCI
ORDER_NO 28160 ICD10CM
PRIMARY_PATH 10044686$10003842$10008804$10010331$Trisomy 13$Autosomal chromosomal abnormalities$Chromosomal abnormalities and abnormal gene carriers$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7341/trisomy-13/resources/1 GARD
RN 0 MSH
SC 3 MSH
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SOS A disorder in which an extra copy of all or a portion of chromosome 13 is present in somatic cells. May be limited to a set of cells (MOSAICISM) in some individuals. Patients present with severe intellectual disability; heart, brain or spinal cord abnormalities; very small or poorly developed eyes (MICROPHTHALMIA); extra digits; CLEFT LIP and/or CLEFT PALATE; and poor muscle tone (HYPOTONIA). Most cases are not inherited and result from random errors during the formation of eggs or sperm in healthy parents. MSH
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q91.7 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q91.7 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q91.7 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF FETUS WITH COMPLETE TRISOMY 13 SYNDROME CHOOSE O35.1XX0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | CONSIDER WHICH FETUS IS AFFECTED BY THE MATERNAL CONDITION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF TRISOMY 13 - MITOTIC NONDISJUNCTION MOSAICISM CHOOSE Q91.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF TRISOMY 13, MEIOTIC NONDISJUNCTION CHOOSE Q91.4 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 125521000119101 | Fetus with complete trisomy 13 syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 205619006 | Trisomy 13, meiotic nondisjunction | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 205620000 | Trisomy 13 - mitotic nondisjunction mosaicism | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~O35.1XX0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q91.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q91.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q91.7 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PJ1.. SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUyho SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T738914 MSH
TERMUI T738918 MSH
TERMUI T738919 MSH
TERMUI T754050 MSH
TERMUI T842611 MSH
TERMUI T842612 MSH
TH GHR (2014) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0152095

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