773394007: Autosomal recessive frontotemporal pachygyria (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria

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

\Finding of brain\Disorder of brain\...

\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria

\Finding of head region\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive frontotemporal pachygyria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive frontotemporal pachygyria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Autosomal recessive frontotemporal pachygyria
\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\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\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\Macrogyria\Autosomal recessive frontotemporal pachygyria
\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\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive frontotemporal pachygyria
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Autosomal recessive frontotemporal pachygyria

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

Descriptions:

Id Description Lang Type Status Case? Module

3723362011 Autosomal recessive frontotemporal pachygyria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3723363018 Autosomal recessive frontotemporal pachygyria en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive frontotemporal pachygyria	Finding site	Structure of cerebral gyrus	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive frontotemporal pachygyria	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive frontotemporal pachygyria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive frontotemporal pachygyria	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive frontotemporal pachygyria	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive frontotemporal pachygyria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive frontotemporal pachygyria	Is a	Macrogyria	true	Inferred relationship	Existential restriction modifier
Autosomal recessive frontotemporal pachygyria	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive frontotemporal pachygyria	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
3723362011	Autosomal recessive frontotemporal pachygyria (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3723363018	Autosomal recessive frontotemporal pachygyria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module