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| Terms & Properties |
Concept Unique Identifier (CUI): C0266483
Semantic Type: Disease or Syndrome
Semantic Type: Congenital Abnormality
GARD Definition: Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive. - this information is from GARD/ORDR/NCATS.
HPO Definition: A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex. [HPO:curators]
HPO Definition: Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. [HPO:probinson]
Synonyms & Abbreviations: (see Synonym Details)
| Broad gyri of cerebrum |
| Cerebral pachygyria |
| incomplete lissencephaly |
| Large gyri of cerebrum |
| Macrogyria (disorder) |
| Macrogyrias |
| Macrogyria |
| Pachygyrias |
| Pachygyria |
| Pachygyrie |
External Source Codes: (none)
Other Properties:
| Name | Value | Source |
|---|---|---|
| ACTIVE | 1 | SNOMEDCT_US |
| CASE_SIGNIFICANCE_ID | 900000000000448009 | SNOMEDCT_US |
| CTV3ID | P242. | SNOMEDCT_US |
| DATE_CREATED | 2013-01-09T00:04:00 | GARD |
| DATE_LAST_MODIFIED | 2013-01-09T00:04:00 | GARD |
| DEFINITION_STATUS_ID | 900000000000074008 | SNOMEDCT_US |
| DISEASE_IDENTIFIER_ID | 5165 | GARD |
| DISEASE_IDENTIFIER_ID | 5166 | GARD |
| DISEASE_IDENTIFIER_ID | 5167 | GARD |
| EFFECTIVE_TIME | 20100131 | SNOMEDCT_US |
| HAS_GARD_PAGE | true | GARD |
| IDENTIFIER_TYPE_ID | 1 | GARD |
| IS_ACTIVE | true | GARD |
| IS_RARE | true | GARD |
| IS_SPANISH | false | GARD |
| LAST_REVIEW_ACTION | Modified | GARD |
| PRIMARY_PATH | 10048910$10052634$10029299$10010331$Pachygyria$Cerebral disorders congenital$Neurological disorders congenital$Congenital, familial and genetic disorders | MDR |
| PRIMARY_SOC | 10010331 | MDR |
| PT_IN_VERSION | 10.0 | MDR |
| PT_IN_VERSION | 10.1 | MDR |
| PT_IN_VERSION | 11.0 | MDR |
| PT_IN_VERSION | 11.1 | MDR |
| PT_IN_VERSION | 12.0 | MDR |
| PT_IN_VERSION | 12.1 | MDR |
| PT_IN_VERSION | 13.0 | MDR |
| PT_IN_VERSION | 13.1 | MDR |
| PT_IN_VERSION | 14.0 | MDR |
| PT_IN_VERSION | 14.1 | MDR |
| PT_IN_VERSION | 15.0 | MDR |
| PT_IN_VERSION | 15.1 | MDR |
| PT_IN_VERSION | 16.0 | MDR |
| PT_IN_VERSION | 16.1 | MDR |
| PT_IN_VERSION | 17.0 | MDR |
| PT_IN_VERSION | 17.1 | MDR |
| PT_IN_VERSION | 18.0 | MDR |
| PT_IN_VERSION | 18.1 | MDR |
| PT_IN_VERSION | 19.0 | MDR |
| PT_IN_VERSION | 19.1 | MDR |
| PT_IN_VERSION | 20.0 | MDR |
| PT_IN_VERSION | 20.1 | MDR |
| PT_IN_VERSION | 8.0 | MDR |
| PT_IN_VERSION | 8.1 | MDR |
| PT_IN_VERSION | 9.0 | MDR |
| PT_IN_VERSION | 9.1 | MDR |
| RARE_DISEASE_URL | http://rarediseases.info.nih.gov/gard/7300/pachygyria/resources/1 | GARD |
| SMQ_TERM_ADDVERSION | 10.0 | MDR |
| SMQ_TERM_CAT | A | MDR |
| SMQ_TERM_LEVEL | 4 | MDR |
| SMQ_TERM_LEVEL | 5 | MDR |
| SMQ_TERM_LMVERSION | 14.0 | MDR |
| SMQ_TERM_SCOPE | 2 | MDR |
| SMQ_TERM_STATUS | A | MDR |
| SMQ_TERM_WEIGHT | 0 | MDR |
| SUBSET_MEMBER | 447562003~CORRELATIONID~447561005 | SNOMEDCT_US |
| SUBSET_MEMBER | 447562003~MAPADVICE~ALWAYS Q04.8 | SNOMEDCT_US |
| SUBSET_MEMBER | 447562003~MAPCATEGORYID~447637006 | SNOMEDCT_US |
| SUBSET_MEMBER | 447562003~MAPGROUP~1 | SNOMEDCT_US |
| SUBSET_MEMBER | 447562003~MAPPRIORITY~1 | SNOMEDCT_US |
| SUBSET_MEMBER | 447562003~MAPRULE~TRUE | SNOMEDCT_US |
| SUBSET_MEMBER | 447562003~MAPTARGET~Q04.8 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~CORRELATIONID~447561005 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPADVICE~ALWAYS Q04.8 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPCATEGORYID~447637006 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPGROUP~1 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPPRIORITY~1 | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPRULE~TRUE | SNOMEDCT_US |
| SUBSET_MEMBER | 6011000124106~MAPTARGET~Q04.8 | SNOMEDCT_US |
| SUBSET_MEMBER | 900000000000497000~MAPTARGET~P242. | SNOMEDCT_US |
| SUBSET_MEMBER | 900000000000508004~ACCEPTABILITYID~900000000000548007 | SNOMEDCT_US |
| SUBSET_MEMBER | 900000000000508004~ACCEPTABILITYID~900000000000549004 | SNOMEDCT_US |
| SUBSET_MEMBER | 900000000000509007~ACCEPTABILITYID~900000000000548007 | SNOMEDCT_US |
| SUBSET_MEMBER | 900000000000509007~ACCEPTABILITYID~900000000000549004 | SNOMEDCT_US |
| TERMUI | T680773 | MSH |
| TERMUI | T746073 | MSH |
| TERMUI | T781489 | MSH |
| TERMUI | T781490 | MSH |
| TH | NLM (2008) | MSH |
| TH | NLM (2012) | MSH |
| TH | ORD (2010) | MSH |
| TYPE_ID | 900000000000003001 | SNOMEDCT_US |
| TYPE_ID | 900000000000013009 | SNOMEDCT_US |
Additional Concept Data: (none)
URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0266483
