Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Turner Syndrome

Synonyms

Syndrome, Ullrich-Turner

Definitions

This syndrome that was originally observed by Ullrich, and designated as identical to TURNER SYNDROME, related the webbing of the neck, loose skin and other anomalies of the syndrome to accumulation of fluid in the embryo starting at the head and dispersing to the extremities (as observed by Bonnevie in mice). Commonly observed at birth in Turner Syndrome and NOONAN SYNDROME; EDEMA of the extremities usually recedes by one year and is an early sign of Turner syndrome, especially in female neonates.

ID

http://purl.bioontology.org/ontology/MESH/D014424

altLabel

Syndrome, Ullrich-Turner

Gonadal Dysgenesis, XO

Monosomy X

XO Gonadal Dysgenesis

Gonadal Dysgenesis, 45,X

Ullrich Turner Syndrome

Turners Syndrome

Status Bonnevie-Ullrich

Bonnevie-Ullrich Syndrome

Status Bonnevie Ullrich

Turner's Syndrome

Bonnevie Ullrich Syndrome

Ullrich-Turner Syndrome

AN

in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available

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

cui

C0041408

C1527168

C0242526

DC

1

definition

This syndrome that was originally observed by Ullrich, and designated as identical to TURNER SYNDROME, related the webbing of the neck, loose skin and other anomalies of the syndrome to accumulation of fluid in the embryo starting at the head and dispersing to the extremities (as observed by Bonnevie in mice). Commonly observed at birth in Turner Syndrome and NOONAN SYNDROME; EDEMA of the extremities usually recedes by one year and is an early sign of Turner syndrome, especially in female neonates.

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.

DX

20020101

FX

D009634

HN

2002(1963); for BONNEVIE-ULLRICH SYNDROME use SEX CHROMOSOME ABNORMALITIES 1963-2001

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D009634

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D003420

http://purl.bioontology.org/ontology/MESH/D056889

http://purl.bioontology.org/ontology/MESH/D003310

http://purl.bioontology.org/ontology/MESH/D050035

http://purl.bioontology.org/ontology/MESH/D000073839

http://purl.bioontology.org/ontology/MESH/D006061

http://purl.bioontology.org/ontology/MESH/D001017

http://purl.bioontology.org/ontology/MESH/D008133

http://purl.bioontology.org/ontology/MESH/D058165

http://purl.bioontology.org/ontology/MESH/D059446

http://purl.bioontology.org/ontology/MESH/D044542

http://purl.bioontology.org/ontology/MESH/D016738

http://purl.bioontology.org/ontology/MESH/D007713

http://purl.bioontology.org/ontology/MESH/D014188

http://purl.bioontology.org/ontology/MESH/D004541

http://purl.bioontology.org/ontology/MESH/D014286

http://purl.bioontology.org/ontology/MESH/D009634

http://purl.bioontology.org/ontology/MESH/D019571

http://purl.bioontology.org/ontology/MESH/D006060

http://purl.bioontology.org/ontology/MESH/D007979

http://purl.bioontology.org/ontology/MESH/D054083

http://purl.bioontology.org/ontology/MESH/D056830

http://purl.bioontology.org/ontology/MESH/D013771

http://purl.bioontology.org/ontology/MESH/D000073842

http://purl.bioontology.org/ontology/MESH/D018636

http://purl.bioontology.org/ontology/MESH/D006343

http://purl.bioontology.org/ontology/MESH/D023961

http://purl.bioontology.org/ontology/MESH/D003330

http://purl.bioontology.org/ontology/MESH/D014927

http://purl.bioontology.org/ontology/MESH/D004374

http://purl.bioontology.org/ontology/MESH/D005611

http://purl.bioontology.org/ontology/MESH/D003914

http://purl.bioontology.org/ontology/MESH/D018785

http://purl.bioontology.org/ontology/MESH/D004437

http://purl.bioontology.org/ontology/MESH/D008382

Machine permutation

2002; see TURNER'S SYNDROME 1963-2001; for BONNEVIE-ULLRICH SYNDROME see SEX CHROMOSOME ABNORMALITIES 1997-2001, see BONNEVIE-ULLRICH SYNDROME 1963-1996

Mapped from

http://purl.bioontology.org/ontology/MESH/C564058

MDA

19990101

MMR

20130708

MN

C14.240.400.980

C13.351.875.253.309.872

C16.320.180.830.835.750

C12.706.316.309.872

C16.131.939.316.309.872

C19.391.119.309.872

C14.280.400.980

C16.131.939.316.795.750

C12.706.316.795.750

C16.131.260.830.835.750

C13.351.875.253.795.750

C16.131.240.400.970

C19.391.119.795.750

notation

D014424

prefLabel

Turner Syndrome

TERMUI

T842626

T782700

T042192

T042193

T430011

T037622

T042191

T430012

TH

UNK (19XX)

NLM (2002)

NLM (1966)

NLM (2012)

ORD (2010)

NLM (1997)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D058533

http://purl.bioontology.org/ontology/MESH/D006330

http://purl.bioontology.org/ontology/MESH/D006059

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http://purl.bioontology.org/ontology/ICD10/Q96.0 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10CM/Q96.9 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26900 National Cancer Institute Thesaurus LOOM
http://purl.bmicc.cn/ontology/ICD10CN/Q96.0 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q96 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.obolibrary.org/obo/DOID_3491 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0041408 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/ICD10/Q96 International Classification of Diseases, Version 10 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q96 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/Q96.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q96.9 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10/Q96.9 International Classification of Diseases, Version 10 CUI