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Turner Syndrome (CUI C0041408) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0041408

NCI Thesaurus Code: C26900  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility.

GARD Definition: Turner syndrome is a chromosomal disorder that usually affects development in females. Symptoms differ among individuals, but may include shortened stature, infertility, extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects, and kidney problems. Females without Turner syndrome have 2 full X chromosomes in each of their cells. An individual with Turner syndrome is missing all or part of one X chromosome. Although it is genetic, it is typically not inherited. Treatment may include growth hormone therapy for short stature and estrogen therapy to help stimulate sexual development. Assisted reproduction techniques can help some women with Turner syndrome become pregnant. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly.

Other physical features typical of Turner syndrome are

  • Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck
  • Low hairline in the back
  • Low-set ears
  • Swollen hands and feet

Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.

Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.

NIH: National Institute of Child Health and Human Development

NICHD Definition: A condition caused by absence of part or all of the second sex chromosome in an individual with female phenotype, resulting in a variable constellation of physical and functional anomalies. Characteristic clinical features may include, but are not limited to, short stature, premature ovarian failure, cardiac anomalies, renal anomalies, skeletal variations, and hearing impairment.

CSP Definition: genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples.

MSH Definition: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

Synonyms & Abbreviations: (see Synonym Details)
45, X Syndrome
45,X Gonadal Dysgenesis
45,X syndrome
45,X/46,XX syndrome
45,X0 Syndrome
45X Syndrome
Bonnevie-Ullrich Syndrome
Bonnevie-Ulrich syndrome
Chromosome X Monosomy X
DWARFISM, OVARIAN
Gonadal Dysgenesis (45,X)
GONADAL DYSGENESIS AA
GONADAL DYSGENESIS A
Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, XO
Gonadal Dysgenesis
Karyotype 45, X
Karyotype 45,X
monosomy X syndrome
Monosomy X
Pterygolymphangiectasia syndrome
Schereshevkii Turner Syndrome
Syndrome, Ullrich-Turner
TS - Turner's syndrome
Turner syndrome (disorder)
Turner Syndrome [Disease/Finding]
Turner Syndrome
Turner Varny Syndrome
Turner's syndrome, unspecified
Turner's syndrome
TURNER-VARNY SYNDROME
Turners Syndrome
Ullrich Turner Syndrome
ULLRICH-TURNER SYNDROME
XO genotype
XO Gonadal Dysgenesis
XO syndrome

External Source Codes: 
NCI Thesaurus Code C26900 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PJ63. SNOMEDCT_US
DATE_CREATED 06/28/2001 MEDLINEPLUS
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
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1254-8447 CSP
DISEASE_IDENTIFIER_ID 34344 GARD
DISEASE_IDENTIFIER_ID 34345 GARD
DISEASE_IDENTIFIER_ID 6181 GARD
DISEASE_IDENTIFIER_ID 6182 GARD
DISEASE_IDENTIFIER_ID 6183 GARD
DISEASE_IDENTIFIER_ID 6184 GARD
DISEASE_IDENTIFIER_ID 6185 GARD
DISEASE_IDENTIFIER_ID 6186 GARD
DISEASE_IDENTIFIER_ID 6187 GARD
DX 20020101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXCLUDES1 Noonan syndrome (Q87.1) ICD10CM
FX D009634 MSH
HAS_GARD_PAGE true GARD
HN 2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001 MSH
IAN DEFAULT ICD10
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-03-19T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant. NDFRT
MESH_DUI D014424 NDFRT
MESH_NAME Turner Syndrome NDFRT
MESH_UI M0022170 NDFRT
MMR 20130708 MSH
MN C12.706.316.309.872 MSH
MN C12.706.316.795.750 MSH
MN C13.351.875.253.309.872 MSH
MN C13.351.875.253.795.750 MSH
MN C14.240.400.980 MSH
MN C14.280.400.980 MSH
MN C16.131.240.400.970 MSH
MN C16.131.260.830.835.750 MSH
MN C16.131.939.316.309.872 MSH
MN C16.131.939.316.795.750 MSH
MN C16.320.180.830.835.750 MSH
MN C19.391.119.309.872 MSH
MN C19.391.119.795.750 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/turnersyndrome.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/turnersyndrome.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Child Health and Human Development http://www.nichd.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Turner Syndrome NCI
NUI N0000003057 NDFRT
ORDER_NO 28193 ICD10CM
ORDER_NO 28194 ICD10CM
ORDER_NO 28200 ICD10CM
PM 2002; see TURNER'S SYNDROME 1963-2001; for BONNEVIE-ULLRICH SYNDROME see SEX CHROMOSOME ABNORMALITIES 1997-2001, see BONNEVIE-ULLRICH SYNDROME 1963-1996 MSH
PRIMARY_PATH 10045181$10040453$10008804$10010331$Turner's syndrome$Sex chromosomal abnormalities$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/7831/turner-syndrome/resources/1 GARD
RXAUI 3251611 RXNORM
RXAUI 3251612 RXNORM
RXAUI 3251614 RXNORM
RXAUI 4223987 RXNORM
RXCUI 1023883 RXNORM
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
SNOMED_CID 38804009 NDFRT
SNOMEDID D4-02272 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q96.9 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~Q96.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q96.9 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q96.9 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PJ63. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-02272 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 T042191 MSH
TERMUI T042192 MSH
TERMUI T042193 MSH
TERMUI T430011 MSH
TERMUI T782700 MSH
TERMUI T842626 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (2002) MSH
TH NLM (2012) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

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