Code System Concept

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Code System Concept

Code System Concept Code	253147000
Code System Concept Name	Type 1 lissencephaly (disorder)
Code System Preferred Concept Name	Type 1 lissencephaly (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3701277019	Classic lissencephaly	Active	Synonym	false	false
377034014	Type 1 lissencephaly	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Lissencephaly (disorder) {204036008 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Type 1 lissencephaly (disorder) {253147000 , SNOMED-CT }

Parent/Child (Relationship Type)

Isolated lissencephaly type 1 without known genetic defect (disorder) {715406003 , SNOMED-CT } Lissencephaly due to LIS1 mutation (disorder) {770560008 , SNOMED-CT } Lissencephaly syndrome Norman Roberts type (disorder) {717977003 , SNOMED-CT } Lissencephaly type 1 due to doublecortin gene mutation (disorder) {715780008 , SNOMED-CT } Miller Dieker syndrome (disorder) {253148005 , SNOMED-CT } Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder) {1269233006 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,