FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

765757003: Bilateral polymicrogyria (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3659598010 Bilateral polymicrogyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3659599019 Bilateral polymicrogyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404574019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3659598010 Bilateral polymicrogyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3659599019 Bilateral polymicrogyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3659600016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404574019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439591001000110 Polymikrogyrie, bilaterale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981941000172114 polymicrogyrie bilatérale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
981941000172114 polymicrogyrie bilatérale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439591001000110 Polymikrogyrie, bilaterale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


6 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bilateral polymicrogyria (disorder) Finding site Gyrus of brain true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral polymicrogyria (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral polymicrogyria (disorder) Is a Microgyria true Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral polymicrogyria (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral polymicrogyria (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral polymicrogyria (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital bilateral perisylvian syndrome (disorder) Is a True Bilateral polymicrogyria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. Is a True Bilateral polymicrogyria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral frontal polymicrogyria Is a True Bilateral polymicrogyria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral frontoparietal polymicrogyria (disorder) Is a True Bilateral polymicrogyria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral generalized polymicrogyria (disorder) Is a True Bilateral polymicrogyria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral parasagittal parieto-occipital polymicrogyria (disorder) Is a True Bilateral polymicrogyria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start