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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003057
http://purl.bioontology.org/ontology/NDFRT/N0000003057
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|---|---|
| Preferred Name | Turner Syndrome [Disease/Finding] |
| Synonyms |
Ullrich-Turner Syndrome
Turner's Syndrome
Turner Syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Ullrich-Turner Syndrome
Turner's Syndrome
Turner Syndrome
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|---|---|
| prefLabel | Turner Syndrome [Disease/Finding]
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| 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.
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| MESH DUI | D014424
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| MESH UI | M0022170
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| MeSH name | Turner Syndrome
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| type | |
| tui | T047
|
| SNOMED CID | 38804009
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| May be treated by |
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| notation | N0000003057
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| Semantic type UMLS property | |
| NUI | N0000003057
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| cui | C0041408
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| NDFRT kind | DISEASE_KIND
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| subClassOf |
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