loading...| Preferred Name |
Cri du Chat Syndrome |
|
| Synonyms |
5p Deletion Syndrome 5p Partial Monosomy Syndrome Cri-du-Chat Syndrome Cri du Chat Syndrome Cat-Cry Syndrome |
|
| Definitions |
A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34518 |
|
| code |
C34518 |
|
| 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 genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure. |
|
| FULL_SYN |
5p Deletion Syndrome 5p Partial Monosomy Syndrome Cri-du-Chat Syndrome Cri du Chat Syndrome Cat-Cry Syndrome |
|
| label |
Cri du Chat Syndrome |
|
| Legacy Concept Name |
Cri_du_Chat_Syndrome |
|
| Preferred_Name |
Cri du Chat Syndrome |
|
| prefixIRI |
Thesaurus:C34518 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0010314 |
|
| subClassOf |