loading...| Preferred Name |
Goldenhar Syndrome |
|
| Synonyms |
Goldenhar Syndrome |
|
| Definitions |
A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84740 |
|
| code |
C84740 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| DEFINITION |
A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate. |
|
| FULL_SYN |
Goldenhar Syndrome |
|
| label |
Goldenhar Syndrome |
|
| Preferred_Name |
Goldenhar Syndrome |
|
| prefixIRI |
Thesaurus:C84740 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0265240 |
|
| subClassOf |