skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201706 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Lissencephaly (CUI C0266463) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0266463

NCI Thesaurus Code: C103921  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.

NICHD Definition: A brain malformation characterized by smooth folds and grooves in the brain.

HPO Definition: A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [HPO:curators]

MSH Definition: A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.

Synonyms & Abbreviations: (see Synonym Details)
Agyrias
Agyria
Lissencephalia
Lissencephalies
Lissencephalie
Lissencephaly (disorder)
Lissencephaly [Disease/Finding]
Lissencephaly pachygyria
Lissencephaly
Pachygyria/lissencephaly

External Source Codes: 
NCI Thesaurus Code C103921 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN note specifics; MICROLISSENCEPHALY see MICROCEPHALY is also available MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source MedDRA NCI
Contributing_Source NICHD NCI
CTV3ID P223. SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DX 20080101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
HN 2008 MSH
MDA 20070709 MSH
MESH_DEFINITION A "smooth brain" malformation of the CEREBRAL CORTEX resulting from abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex. NDFRT
MESH_DUI D054082 NDFRT
MESH_NAME Lissencephaly NDFRT
MESH_UI M0501372 NDFRT
MMR 20160226 MSH
MN C10.500.507.450.499 MSH
MN C16.131.666.507.450.499 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Lissencephaly NCI
NUI N0000181090 NDFRT
PM 2008 MSH
PRIMARY_PATH 10048911$10052634$10029299$10010331$Lissencephaly$Cerebral disorders congenital$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 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RXAUI 3287863 RXNORM
RXAUI 3287865 RXNORM
RXCUI 1028968 RXNORM
SID HP:0002537 HPO
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
SNOMEDID D4-9000C SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q04.3 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~Q04.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q04.3 | DESCENDANTS NOT EXHAUSTIVELY MAPPED 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~Q04.3 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~P223. SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-9000C 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 T680770 MSH
TERMUI T680771 MSH
TERMUI T680772 MSH
TH NLM (2008) 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=C0266463

Mainbox Bottom