loading...| Preferred Name |
megalencephaly |
|
| Synonyms |
megalencephaly (disease) macroencephaly megalencephaly |
|
| Definitions |
A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016608 |
|
| closeMatch | ||
| database_cross_reference |
MedDRA:10050183 MESH:D058627 SCTID:9740002 Orphanet:2477 icd11.foundation:368780653 GARD:16601 HP:0001355 ICD9:742.4 |
|
| definition |
A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome). |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_2477 |
|
| has_exact_synonym |
megalencephaly (disease) macroencephaly megalencephaly |
|
| IAO_0000233 | ||
| IAO_0000589 |
megalencephaly (disease) |
|
| id |
MONDO:0016608 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
megalencephaly |
|
| notation |
MONDO:0016608 |
|
| prefLabel |
megalencephaly |
|
| subClassOf |