loading...| Preferred Name |
Cerebellar hypoplasia |
| Synonyms |
Small cerebellum Underdeveloped cerebellum Hypoplastic cerebellum Hypoplasia of cerebellum Congenital cerebellar hypoplasia |
| Definitions |
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. |
| ID |
http://purl.obolibrary.org/obo/HP_0001321 |
| comment |
By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. |
| database_cross_reference |
MSH:C562568 SNOMEDCT_US:16026008 UMLS:C0266470 |
| definition |
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. |
| has_alternative_id |
HP:0007038 HP:0006806 HP:0006910 HP:0007053 |
| has_exact_synonym |
Small cerebellum Underdeveloped cerebellum Hypoplastic cerebellum Hypoplasia of cerebellum Congenital cerebellar hypoplasia |
| has_obo_namespace |
human_phenotype |
| id |
HP:0001321 |
| label |
Cerebellar hypoplasia |
| notation |
HP:0001321 |
| prefLabel |
Cerebellar hypoplasia |
| treeView | |
| subClassOf |