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Complete trisomy 18 syndrome (CUI C0152096) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0152096

NCI Thesaurus Code: C101362  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound mental retardation and severe malformations. Individuals with this syndrome rarely live past one year.

RADLEX Definition: caused by the presence of all or part of an extra 18th chromosome. Produces a condition which is caused by a error in cell division, known as meiotic disjunction.

GARD Definition: 

Trisomy 18 is a chromosomal condition associated with severe intellectual disability and abnormalities in many parts of the body. Affected individuals often have a low birth weight; a small, abnormally shaped head; a small jaw and mouth; clenched fists with overlapping fingers; heart defects; and abnormalities of other organs.  Due to the presence of several life-threatening medical problems, fifty percent of infants with this condition do not survive beyond the first week of life. Some children have survived to teenage years, but with serious medical and developmental problems.  Most cases of Trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. Most causes are not inherited and occur by chance.

- this information is from GARD/ORDR/NCATS.

NICHD Definition: A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.

Synonyms & Abbreviations: (see Synonym Details)
18 trisomy
Chromosome 18 duplication
Chromosome 18 trisomy
Complete trisomy 18 syndrome (disorder)
Complete Trisomy 18 Syndrome
E3 Trisomy
Edward's syndrome
Edwards syndrome
Edwards' syndrome, unspecified
Edwards' syndrome
Trisomy 16-18 (formerly)
Trisomy 18 Syndrome
Trisomy 18, unspecified
Trisomy 18
Trisomy E (formerly)
Trisomy E Syndrome

External Source Codes: 
NCI Thesaurus Code C101362 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PJ2.. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 18300 GARD
DISEASE_IDENTIFIER_ID 18301 GARD
DISEASE_IDENTIFIER_ID 18302 GARD
DISEASE_IDENTIFIER_ID 18303 GARD
DISEASE_IDENTIFIER_ID 18304 GARD
DISEASE_IDENTIFIER_ID 32778 GARD
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 174 MSH
HAS_GARD_PAGE true GARD
HM D002887 MSH
HM D014314 MSH
IAN DEFAULT ICD10
ICE Trisomy: ICD9CM
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2007-04-17T00:00:00 GARD
MDA 20131024 MSH
MMR 20150818 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MODULE_ID 731000124108 SNOMEDCT_US
MODULE_NAME US National Library of Medicine maintained module SNOMEDCT_US
NICHD_Hierarchy_Term Trisomy 18 NCI
ORDER_NO 28156 ICD10CM
PRIMARY_PATH 10053884$10003842$10008804$10010331$Trisomy 18$Autosomal chromosomal abnormalities$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 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/6321/trisomy-18/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
SNOMEDID D4-02184 SNOMEDCT_US
SOS A disorder in which an extra copy of chromosome 18 is present in somatic cells. Most affected fetuses do not survive to birth. Other characteristics include slow growth in utero, low birth weight, heart and multiple organ defects, and clenched fists with overlapping fingers. Those who survive through their first year often have severe intellectual disabilities. Results 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 Q91.3 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~Q91.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q91.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF FETUS WITH COMPLETE TRISOMY 18 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 18 - MEIOTIC NONDISJUNCTION CHOOSE Q91.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF TRISOMY 18 - MITOTIC NONDISJUNCTION MOSAICISM CHOOSE Q91.1 | 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 125511000119108 | Fetus with complete trisomy 18 syndrome (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 205623003 | Trisomy 18 - meiotic nondisjunction (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 205624009 | Trisomy 18 - mitotic nondisjunction mosaicism (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~O35.1XX0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q91.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q91.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q91.3 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PJ2.. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-02184 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 T842613 MSH
TERMUI T842614 MSH
TERMUI T842615 MSH
TERMUI T842616 MSH
TERMUI T842617 MSH
TH GHR (2014) 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=C0152096

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