loading...| Preferred Name |
Turner Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26900 |
| ALT_DEFINITION |
A chromosomal abnormality occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. 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. |
| code |
C26900 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177383 |
| Contributing_Source |
ACC/AHA NICHD Cellosaurus 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 |
Monosomy X 45,X0 Syndrome Turner Syndrome Gonadal Dysgenesis Bonnevie-Ullrich Syndrome 45,X Gonadal Dysgenesis Turner syndrome Ullrich-Turner Syndrome 45X Syndrome |
| Is_PCDC_GCT_Authorized_Value_For_Variable | |
| label |
Turner Syndrome |
| Legacy Concept Name |
Turner_s_Syndrome |
| Preferred_Name |
Turner Syndrome |
| prefixIRI |
Thesaurus:C26900 |
| prefLabel |
Turner Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0041408 |
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27564 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27565 |