Link to this page
Computer Retrieval of Information on Scientific Projects Thesaurus
Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/5002-0024
http://purl.bioontology.org/ontology/CSP/5002-0024
|
|---|---|
| Preferred Name | Smith Magenis syndrome |
| Definitions |
a rare chromosomal disorder characterized by abnormalities of the craniofacial area (brachycephaly, prognathism, cleft palate), delays in the acquisition of skills requiring the coordination of mental and muscular activities, mental retardation; most affected individuals experience speech delays that may occur in association with hearing impairment; behavioral abnormalities may include hyperactivity and self-destructive behavior.
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | a rare chromosomal disorder characterized by abnormalities of the craniofacial area (brachycephaly, prognathism, cleft palate), delays in the acquisition of skills requiring the coordination of mental and muscular activities, mental retardation; most affected individuals experience speech delays that may occur in association with hearing impairment; behavioral abnormalities may include hyperactivity and self-destructive behavior. |
|---|---|
| prefLabel | Smith Magenis syndrome
|
| type | |
| tui | T047
|
| notation | 5002-0024
|
| Semantic type UMLS property | |
| DID | 5002-0024
|
| cui | C0795864
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |