Turner Syndrome

Preferred Label : Turner Syndrome;

NCIt synonyms : Gonadal Dysgenesis; Turner s Syndrome;

NCIt related terms : 45,X0 Syndrome; Ullrich-Turner Syndrome; 45,X Gonadal Dysgenesis; Monosomy X; 45X Syndrome; Bonnevie-Ullrich 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.;

Alternative definition : NICHD: 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.; ACC/AHA: A chromosomal abnormality occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes.;

Details

Origin ID

C26900;

UMLS CUI

C0041408;

Automatic exact mappings (from CISMeF team)
- Bonnevie-Ullrich syndrome [MedDRA LLT]
- Bonnevie-Ullrich syndrome [MeSH concept]
- Monosomy X (morphologic abnormality) [SNOMED CT concept]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
- gonadal dysgenesis, 45,X [MeSH concept]
- noonan syndrome [MeSH Descriptor]
- turner syndrome [EMDN type]
- turner's syndrome [medical devices type]
Currated CISMeF NLP mapping
- Gonadal dysgenesis [ICD-9 code]
- Gonadal dysgenesis [PASCAL descriptor]
- Gonadal dysgenesis [HPO term]
- Gonadal dysgenesis [MedDRA Preferred Term]
- Gonadal dysgenesis (disorder) [SNOMED CT concept]
- Gonadal dysgenesis NOS [MedDRA LLT]
- Karyotype 45, X [ICD-10 Sub-category]
- Karyotype 45,X [ICD-10 Sub-category (who)]
- Monosomy X [ORDO Disease]
- Monosomy X (disorder) [SNOMED CT concept]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [Disease (Nov.)]
- Turner syndrome [DO Concept]
- Turner syndrome [ICD-11 Subcategory]
- 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 genotype [MedDRA LLT]
- gonadal dysgenesis [Radlex concept]
- gonadal dysgenesis [MeSH Descriptor]
- gonadal dysgenesis [MeSH concept]
- gonadal dysgenesis syndrome [Radlex concept]
- turner syndrome [MedlinePlus Topic]
- turner syndrome [MeSH Descriptor]
- turner syndrome [MeSH concept]
- turner syndrome, nos [SNOMED Notion]
DO Cross reference
- Turner syndrome [DO Concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
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 [PASCAL descriptor]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- 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 genotype [MedDRA LLT]
- turner syndrome [MeSH concept]
- turner syndrome [MedlinePlus Topic]
- turner syndrome [MeSH Descriptor]
- turner syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Karyotype 45, X [ICD-11 Sub-sub category]
Validated automatic mappings to NTBT
- gonadal dysgenesis [DO Concept]
- gonadal dysgenesis [Disease (Nov.)]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GCT Authorized Value Terminology [NCIt concept]
- GCT Medical History Table [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
disease_may_have_associated_disease
- Atypical Polypoid Adenomyoma [NCIt concept]
- Cystic Hygroma [NCIt concept]
may_be_associated_disease_of_disease
- Atypical Polypoid Adenomyoma [NCIt concept]
- Cervical Atypical Polypoid Adenomyoma [NCIt concept]
- Uterine Corpus Atypical Polypoid Adenomyoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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