782879004: Occipital pachygyria and polymicrogyria (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Occipital pachygyria and polymicrogyria
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Occipital pachygyria and polymicrogyria
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Occipital pachygyria and polymicrogyria
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\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\Occipital pachygyria and polymicrogyria
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Occipital pachygyria and polymicrogyria
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria

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

\Finding of brain\Encephalopathy\...

\Disorder of cerebral cortex\Macrogyria\Occipital pachygyria and polymicrogyria

\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria

\Finding of head region\Disorder of cerebral cortex\Macrogyria\Occipital pachygyria and polymicrogyria

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Occipital pachygyria and polymicrogyria
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Occipital pachygyria and polymicrogyria
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Occipital pachygyria and polymicrogyria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of head\Encephalopathy\Disorder of cerebral cortex\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Developmental disorder\Developmental hereditary disorder\Occipital pachygyria and polymicrogyria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Occipital pachygyria and polymicrogyria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macrogyria\Occipital pachygyria and polymicrogyria

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756524017 Occipital pachygyria and polymicrogyria (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3756525016 Occipital pachygyria and polymicrogyria en Synonym Active Case insensitive SNOMED CT core

3756526015 Occipital MCD (malformation of cortical development) en Synonym Active Initial character case insensitive SNOMED CT core

3756527012 A rare genetic cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34. en Definition Active Case sensitive SNOMED CT core

3756528019 A rare genetic cerebral malformation characterised by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalised tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Occipital pachygyria and polymicrogyria	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Occipital pachygyria and polymicrogyria	Is a	Microgyria	true	Inferred relationship	Some
Occipital pachygyria and polymicrogyria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Occipital pachygyria and polymicrogyria	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Occipital pachygyria and polymicrogyria	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Occipital pachygyria and polymicrogyria	Occurrence	Congenital	true	Inferred relationship	Some	1
Occipital pachygyria and polymicrogyria	Finding site	Structure of occipital lobe gyrus	true	Inferred relationship	Some	2
Occipital pachygyria and polymicrogyria	Occurrence	Congenital	true	Inferred relationship	Some	2
Occipital pachygyria and polymicrogyria	Finding site	Structure of occipital lobe gyrus	true	Inferred relationship	Some	1
Occipital pachygyria and polymicrogyria	Is a	Macrogyria	true	Inferred relationship	Some
Occipital pachygyria and polymicrogyria	Associated morphology	Enlargement	true	Inferred relationship	Some	2
Occipital pachygyria and polymicrogyria	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Occipital pachygyria and polymicrogyria	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756524017	Occipital pachygyria and polymicrogyria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756525016	Occipital pachygyria and polymicrogyria	en	Synonym	Active	Case insensitive	SNOMED CT core
3756526015	Occipital MCD (malformation of cortical development)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3756527012	A rare genetic cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34.	en	Definition	Active	Case sensitive	SNOMED CT core
3756528019	A rare genetic cerebral malformation characterised by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalised tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. There is evidence the disease is caused by homozygous or compound heterozygous mutations in the LAMC3 gene on chromosome 9q34.	en	Definition	Active	Case sensitive	SNOMED CT core