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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Cri-du-Chat Syndrome [Disease/Finding] | |
| Synonyms |
Cri-du-Chat Syndrome Chromosome 5 Short Arm Deletion Syndrome 5p- Syndrome Chromosome 5p- Syndrome Crying Cat Syndrome 5p Deletion Syndrome Cat Cry Syndrome Chromosome 5p Deletion Syndrome 5p Minus Syndrome Deletion of Short Arm of Chromosome 5 Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000872 |
|
| altLabel |
Cri-du-Chat Syndrome Chromosome 5 Short Arm Deletion Syndrome 5p- Syndrome Chromosome 5p- Syndrome Crying Cat Syndrome 5p Deletion Syndrome Cat Cry Syndrome Chromosome 5p Deletion Syndrome 5p Minus Syndrome Deletion of Short Arm of Chromosome 5 Syndrome
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|
| cui |
C0010314
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| MESH DEFINITION |
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
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| MESH DUI |
D003410
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| MeSH name |
Cri-du-Chat Syndrome
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|
| MESH UI |
M0005309
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|
| NDFRT kind |
DISEASE_KIND
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|
| notation |
N0000000872
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|
| NUI |
N0000000872
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|
| prefLabel |
Cri-du-Chat Syndrome [Disease/Finding]
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| SNOMED CID |
70173007
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|
| tui |
T047
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| subClassOf |
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