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4945003: Microgyria (disorder)

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

Descriptions:

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
92681000172111 microgyrie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
573081000172115 microgyria fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453331001000119 Polymikrogyrie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

12 descendants. Search Descendants:

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 true Inferred relationship Some
Microgyria Finding site Brain structure false Inferred relationship Some 3
Microgyria Associated morphology Congenital smallness 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 anomalie congénitale false Inferred relationship Some 3
Microgyria Associated morphology anomalie du développement false Inferred relationship Some 1
Microgyria Occurrence Congenital false Inferred relationship Some
Microgyria Associated morphology Congenital smallness 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 anomalie du développement 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 anomalie congénitale false Inferred relationship Some 3
Microgyria Finding site Structure of central nervous system (body structure) false Inferred relationship Some 3
Microgyria Associated morphology Congenital smallness false Inferred relationship Some 3
Microgyria Finding site Structure of gyrus of brain (body structure) false Inferred relationship Some 3
Microgyria Is a microcéphalie 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 is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. 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. Is a True Microgyria Inferred relationship Some
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. Is a True Microgyria Inferred relationship Some

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