turner syndrome

Preferred Label : turner syndrome;

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.;

MeSH synonym : turners syndrome; turner's syndrome; Ullrich-Turner syndrome; syndrome, Ullrich-Turner; ullrich turner syndrome;

CISMeF synonym : Turner;

Related MeSH term : gonadal dysgenesis, 45,X; Bonnevie-Ullrich syndrome; Gonadal Dysgenesis, XO; XO Gonadal Dysgenesis; Monosomy X; Bonnevie Ullrich Syndrome; Status Bonnevie-Ullrich; Status Bonnevie Ullrich;

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

Wikipedia link : https://en.wikipedia.org/wiki/Turner syndrome;

Details

Origin ID

D014424;

UMLS CUI

C0041408;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Bonnevie-Ullrich Syndrome [NCIt concept]
- Bonnevie-Ullrich syndrome [MedDRA LLT]
- Monosomy X (morphologic abnormality) [SNOMED CT concept]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
- turner's syndrome [medical devices type]
Currated CISMeF NLP mapping
- Karyotype 45, X [ICD-10 Sub-category]
- Karyotype 45,X [ICD-10 Sub-category (who)]
- Monosomy X [NCIt concept]
- Monosomy X [ORDO Disease]
- Monosomy X (disorder) [SNOMED CT concept]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner Syndrome [NCIt concept]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome [Disease (Nov.)]
- Turner syndrome [DO Concept]
- Turner syndrome [ICD-11 Subcategory]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [ORDO Disease]
- Turner syndrome (disorder) [SNOMED CT concept]
- Turner's syndrome [ICD-10 category]
- Turner's syndrome [MedDRA Preferred Term]
- Turner's syndrome, unspecified [ICD-10 Sub-category]
- Turners syndrome [ICD-10 category (who)]
- Turners syndrome, unspecified [ICD-10 Sub-category (who)]
- XO Syndrome [NCIt concept]
- XO genotype [MedDRA LLT]
- gonadal dysgenesis syndrome [Radlex concept]
- turner syndrome [MedlinePlus Topic]
- turner syndrome, nos [SNOMED Notion]
DO Cross reference
- Turner syndrome [DO Concept]
Manual BTNT mappings - CISMeF
- Mosaic monosomy X [ORDO Disease]
- Turner syndrome due to structural X chromosome anomalies [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with cataract [ORDO Disease]
- Gonadal dysgenesis of gynecological interest [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Rare endocrine growth disease [ORDO Disease]
- Rare female infertility [ORDO Disease]
- Sex-chromosome number anomaly [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
MedlinePlus topic(s)
- turner syndrome [MedlinePlus Topic]
ORDO relation(s)
- Turner syndrome [ORDO Disease]
Record concept(s)
- Bonnevie-Ullrich syndrome [MeSH concept]
- gonadal dysgenesis, 45,X [MeSH concept]
- turner syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- turner Syndrome-Associated neurocognitive phenotype [MeSH Supplementary Concept]
See also
- noonan syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Karyotype 45, X [ICD-10 Sub-category]
- Karyotype 45, X [ICD-11 Sub-sub category]
- Monosomy X [ORDO Disease]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner Syndrome [NCIt concept]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome (disorder) [SNOMED CT concept]
- Turner's syndrome [ICD-10 category]
- Turner's syndrome [MedDRA Preferred Term]
- Turner's syndrome, unspecified [ICD-10 Sub-category]
- Turners syndrome [ICD-10 category (who)]
- Turners syndrome, unspecified [ICD-10 Sub-category (who)]
- XO Syndrome [NCIt concept]
- XO genotype [MedDRA LLT]
- turner syndrome [MedlinePlus Topic]
- turner syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Karyotype 45, X [ICD-11 Sub-sub category]

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