Turner syndrome

ICD-11 code : LD50.0;

Preferred Label : Turner syndrome;

ICD-11 definition : Karyotype missing one X chromosome (45,X0 or 45,X0/46,XX mosaicism); gonads: ovaries (streak); phenotype female with short stature, amenorrhea (hypergonadotropic hypogonadism), absence of sexual development, webbed neck, low set ears, posterior hairline, widely-spaced nipples, short fourth metacarpals, and increased carrying angle at the elbow (cubitus valgus). Often associated with renal, cardiac and ocular abnormalities.;

ICD-11 synonym : XO syndrome; Ullrich-Turner syndrome; Monosomy X;

ICD-11 inclusion : Monosomy X;

Details

Origin ID

1987089698;

Automatic exact mappings (from CISMeF team)
- Monosomy X (morphologic abnormality) [SNOMED CT concept]
- turner syndrome [EMDN type]
Currated CISMeF NLP mapping
- Monosomy X [NCIt concept]
- Monosomy X (disorder) [SNOMED CT concept]
- Monosomy X syndrome [ORDO Disease]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner Syndrome [NCIt concept]
- Turner syndrome [DO Concept]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome [ORDO Disease]
- Turner syndrome (disorder) [SNOMED CT concept]
- Turner's syndrome [MedDRA Preferred Term]
- Turner's syndrome [ICD-10 category]
- Turners syndrome [ICD-10 category (who)]
- XO Syndrome [NCIt concept]
- turner syndrome [MeSH Descriptor]
- turner syndrome [MeSH concept]
- turner syndrome [MedlinePlus Topic]
- turner syndrome, nos [SNOMED Notion]
ICD-10 Mapping
- Turner's syndrome [ICD-10 category]
Validated automatic mappings to NTBT
- congenital anomaly nos/multiple [ICPC-2 Rubric]

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