loading...| Preferred Name | Turner Syndrome | |
| Synonyms |
Ullrich-Turner Syndrome 45,X0 Syndrome Bonnevie-Ullrich Syndrome 45,X Gonadal Dysgenesis Turner syndrome Gonadal Dysgenesis Turner Syndrome 45X Syndrome Monosomy X |
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| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26900 |
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| ALT_DEFINITION |
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. A chromosomal abnormality occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. |
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| code |
C26900 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177391 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
|
| Contributing_Source |
Cellosaurus ACC/AHA NICHD PCDC |
|
| 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. |
|
| FULL_SYN |
Ullrich-Turner Syndrome 45,X0 Syndrome Bonnevie-Ullrich Syndrome 45,X Gonadal Dysgenesis Turner syndrome Gonadal Dysgenesis Turner Syndrome 45X Syndrome Monosomy X |
|
| Is_PCDC_GCT_Authorized_Value_For_Variable | ||
| label |
Turner Syndrome |
|
| Legacy Concept Name |
Turner_s_Syndrome |
|
| Preferred_Name |
Turner Syndrome |
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| prefixIRI |
Thesaurus:C26900 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0041408 |
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61420 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543 |