loading...| Preferred Name |
Congenital Cerebellar Hypoplasia |
|
| Synonyms |
Congenital Cerebellar Hypoplasia |
|
| Definitions |
Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98890 |
|
| code |
C98890 |
|
| 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 |
Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. |
|
| FULL_SYN |
Congenital Cerebellar Hypoplasia |
|
| label |
Congenital Cerebellar Hypoplasia |
|
| Preferred_Name |
Congenital Cerebellar Hypoplasia |
|
| prefixIRI |
Thesaurus:C98890 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C4228123 |
|
| subClassOf |