773394007: Autosomal recessive frontotemporal pachygyria (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

\Finding of brain\Disorder of brain (disorder)\...

\Disorder of cerebral cortex (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)

\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macrogyria\Autosomal recessive frontotemporal pachygyria (disorder)

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3723363018 Autosomal recessive frontotemporal pachygyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3723364012 A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4217931000052113 autosomalt recessiv frontotemporal pakygyri sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive frontotemporal pachygyria (disorder)	Finding site	Structure of cerebral gyrus (body structure)	true	Inferred relationship	Some	1
Autosomal recessive frontotemporal pachygyria (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive frontotemporal pachygyria (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive frontotemporal pachygyria (disorder)	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	1
Autosomal recessive frontotemporal pachygyria (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Autosomal recessive frontotemporal pachygyria (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive frontotemporal pachygyria (disorder)	Is a	Macrogyria	true	Inferred relationship	Some
Autosomal recessive frontotemporal pachygyria (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive frontotemporal pachygyria (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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 (core metadata concept)	SNOMED CT core
3723363018	Autosomal recessive frontotemporal pachygyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723364012	A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4217931000052113	autosomalt recessiv frontotemporal pakygyri	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)