785299009: Cobblestone lissencephaly without muscular or ocular involvement (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Developmental disorder\Developmental hereditary disorder\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 2 lissencephaly\Cobblestone lissencephaly without muscular or ocular involvement

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3766826014 Cobblestone lissencephaly without muscular or ocular involvement (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3766827017 Lissencephaly type 2 without muscular or ocular involvement en Synonym Active Entire term case insensitive SNOMED CT core module
3766828010 Cobblestone lissencephaly without muscular or ocular involvement en Synonym Active Entire term case insensitive SNOMED CT core module
3766829019 Cobblestone lissencephaly without muscular or eye involvement en Synonym Active Entire term case insensitive SNOMED CT core module
3766830012 Lissencephaly type 2 without muscular or eye involvement en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cobblestone lissencephaly without muscular or ocular involvement	Is a	Type 2 lissencephaly	true	Inferred relationship	Existential restriction modifier
Cobblestone lissencephaly without muscular or ocular involvement	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cobblestone lissencephaly without muscular or ocular involvement	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cobblestone lissencephaly without muscular or ocular involvement	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Cobblestone lissencephaly without muscular or ocular involvement	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cobblestone lissencephaly without muscular or ocular involvement	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Cobblestone lissencephaly without muscular or ocular involvement	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Cobblestone lissencephaly without muscular or ocular involvement	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3766826014	Cobblestone lissencephaly without muscular or ocular involvement (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3766827017	Lissencephaly type 2 without muscular or ocular involvement	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3766828010	Cobblestone lissencephaly without muscular or ocular involvement	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3766829019	Cobblestone lissencephaly without muscular or eye involvement	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3766830012	Lissencephaly type 2 without muscular or eye involvement	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module