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23024003: Macrogyria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
38680016 Macrogyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
38681017 Pachygyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
752498016 Macrogyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2027731000005110 Macrogyria da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Macrogyria (disorder) Is a Disorder of neuronal migration and differentiation (disorder) true Inferred relationship Some
Macrogyria (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Macrogyria (disorder) Finding site Structure of gyrus of brain (body structure) false Inferred relationship Some 1
Macrogyria (disorder) Associated morphology kongenit hypertrofi false Inferred relationship Some 1
Macrogyria (disorder) 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 1
Macrogyria (disorder) Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Macrogyria (disorder) Associated morphology kongenit anomali false Inferred relationship Some 1
Macrogyria (disorder) Associated morphology dysgenese false Inferred relationship Some 1
Macrogyria (disorder) Occurrence Congenital false Inferred relationship Some
Macrogyria (disorder) Finding site Brain structure false Inferred relationship Some 1
Macrogyria (disorder) Associated morphology kongenit hypertrofi false Inferred relationship Some 1
Macrogyria (disorder) 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 1
Macrogyria (disorder) Finding site Structure of gyrus of brain (body structure) false Inferred relationship Some 1
Macrogyria (disorder) Associated morphology kongenit forstørrelse false Inferred relationship Some 2
Macrogyria (disorder) Is a Disorder of cerebral cortex false Inferred relationship Some
Macrogyria (disorder) Finding site Structure of cerebral gyrus (body structure) false Inferred relationship Some 2
Macrogyria (disorder) Occurrence Congenital true Inferred relationship Some 1
Macrogyria (disorder) Associated morphology kongenit anomali false Inferred relationship Some 1
Macrogyria (disorder) Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Macrogyria (disorder) Occurrence Congenital false Inferred relationship Some 3
Macrogyria (disorder) Associated morphology dysgenese false Inferred relationship Some 3
Macrogyria (disorder) Finding site Brain structure false Inferred relationship Some 3
Macrogyria (disorder) Is a cerebrale anomalier false Inferred relationship Some
Macrogyria (disorder) Associated morphology kongenit forstørrelse false Inferred relationship Some 1
Macrogyria (disorder) Finding site Structure of cerebral gyrus (body structure) true Inferred relationship Some 1
Macrogyria (disorder) Is a Kongenitte anomalier og udviklingsanomalier i nervesystemet false Inferred relationship Some
Macrogyria (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Macrogyria (disorder) Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 1
Macrogyria (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Some
Macrogyria (disorder) Is a Finding of head region true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Central bilateral macrogyria (rolandic and perisylvian) is a neuronal migration disorder with characteristics of pseudobulbar palsy, developmental delay, mild intellectual disability and epilepsy. It has been described in at least four children. Is a True Macrogyria (disorder) Inferred relationship Some
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. Is a True Macrogyria (disorder) Inferred relationship Some
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. Is a True Macrogyria (disorder) 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 Macrogyria (disorder) Inferred relationship Some
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. Is a True Macrogyria (disorder) Inferred relationship Some

This concept is not in any reference sets

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