715780008: Lissencephaly type 1 due to doublecortin gene mutation (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation

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

\Finding of brain\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Lissencephaly type 1 due to doublecortin gene mutation
\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 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\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 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\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 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\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 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Lissencephaly\Type 1 lissencephaly\Lissencephaly type 1 due to doublecortin gene mutation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3303689011 Lissencephaly type 1 due to doublecortin gene mutation (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3303690019 Lissencephaly type 1 due to doublecortin gene mutation en Synonym Active Entire term case insensitive SNOMED CT core module

3303691015 X-linked lissencephaly type 1 en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lissencephaly type 1 due to doublecortin gene mutation	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier
Lissencephaly type 1 due to doublecortin gene mutation	Is a	Type 1 lissencephaly	true	Inferred relationship	Existential restriction modifier
Lissencephaly type 1 due to doublecortin gene mutation	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Lissencephaly type 1 due to doublecortin gene mutation	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Lissencephaly type 1 due to doublecortin gene mutation	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Lissencephaly type 1 due to doublecortin gene mutation	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier	2
Lissencephaly type 1 due to doublecortin gene mutation	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Lissencephaly type 1 due to doublecortin gene mutation	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Lissencephaly type 1 due to doublecortin gene mutation	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	1
Lissencephaly type 1 due to doublecortin gene mutation	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Lissencephaly type 1 due to doublecortin gene mutation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Lissencephaly type 1 due to doublecortin gene mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Lissencephaly type 1 due to doublecortin gene mutation	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

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Id	Description	Lang	Type	Status	Case?	Module
3303689011	Lissencephaly type 1 due to doublecortin gene mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3303690019	Lissencephaly type 1 due to doublecortin gene mutation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3303691015	X-linked lissencephaly type 1	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module