Code System Concept

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Code System Concept

Code System Concept Code	785299009
Code System Concept Name	Cobblestone lissencephaly without muscular or ocular involvement (disorder)
Code System Preferred Concept Name	Cobblestone lissencephaly without muscular or ocular involvement (disorder)
Concept Status	Published
Concept Status Date	09/01/2020
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2019
SDO Date Created	07/31/2019
SDO Date Revised	07/31/2019
Description	A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. There is evidence the disease is caused by homoz
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3766827017	Lissencephaly type 2 without muscular or ocular involvement	Current	Synonym	true	false
3766828010	Cobblestone lissencephaly without muscular or ocular involvement	Current	Synonym	true	false
3766829019	Cobblestone lissencephaly without muscular or eye involvement	Current	Synonym	true	false
3766830012	Lissencephaly type 2 without muscular or eye involvement	Current	Synonym	true	false

Associated Value Sets

Value Set Name	Version(s)
Disease	10 , 9

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Type 2 lissencephaly (disorder) {253149002 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

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Page last reviewed:December 5, 2018
Page last updated:December 5, 2018
Content source:
- Centers for Disease Control and Prevention,

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