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4945003: Microgyria (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria
\Head finding (finding)\Finding of head region\Microgyria
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital microencephaly (disorder)\Microgyria

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microgyria	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microgyria	Is a	Disorder of neuronal migration and differentiation (disorder)	true	Inferred relationship	Some
Microgyria	Finding site	Brain structure	false	Inferred relationship	Some	3
Microgyria	Associated morphology	kongenit lille statur	false	Inferred relationship	Some	1
Microgyria	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Microgyria	Finding site	The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica.	false	Inferred relationship	Some
Microgyria	Finding site	Structure of gyrus of brain (body structure)	true	Inferred relationship	Some	1
Microgyria	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
Microgyria	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Microgyria	Occurrence	Congenital	false	Inferred relationship	Some
Microgyria	Associated morphology	kongenit lille statur	false	Inferred relationship	Some	1
Microgyria	Finding site	Structure of gyrus of brain (body structure)	false	Inferred relationship	Some	1
Microgyria	Occurrence	Congenital	false	Inferred relationship	Some	2
Microgyria	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Microgyria	Finding site	Brain structure	false	Inferred relationship	Some	2
Microgyria	Occurrence	Congenital	false	Inferred relationship	Some	3
Microgyria	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
Microgyria	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	3
Microgyria	Associated morphology	kongenit lille statur	false	Inferred relationship	Some	3
Microgyria	Finding site	Structure of gyrus of brain (body structure)	false	Inferred relationship	Some	3
Microgyria	Is a	Mikrocefalus	false	Inferred relationship	Some
Microgyria	Is a	Congenital anomaly of nervous system of head/neck	false	Inferred relationship	Some
Microgyria	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microgyria	Occurrence	Congenital	true	Inferred relationship	Some	1
Microgyria	Is a	Congenital microencephaly (disorder)	true	Inferred relationship	Some
Microgyria	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1
Microgyria	Is a	Finding of head region	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital bilateral perisylvian syndrome (disorder)	Is a	False	Microgyria	Inferred relationship	Some
Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	Is a	True	Microgyria	Inferred relationship	Some
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.	Is a	True	Microgyria	Inferred relationship	Some
Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.	Is a	True	Microgyria	Inferred relationship	Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)	Is a	True	Microgyria	Inferred relationship	Some
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.	Is a	True	Microgyria	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
9257015	Microgyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9258013	Polymicrogyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9259017	Micropolygyria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
787130016	Microgyria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1982051000005116	Mikrogyri	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)