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890286007: bilaterale frontopariëtale polymicrogyrie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4011913014 Bilateral frontoparietal polymicrogyria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4011914015 Bilateral frontoparietal polymicrogyria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4012684013 BFPP - bilateral frontoparietal polymicrogyria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
12050251000146116 bilaterale frontopariëtale polymicrogyrie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12050261000146118 bilaterale frontopariëtale polymicrogyrie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4011936017 Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4011937014 Bilateral frontoparietal polymicrogyria is a sub-type of polymicrogyria. It is a cerebral cortical malformation characterised by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bilateral frontoparietal polymicrogyria (disorder) Is a Bilateral polymicrogyria (disorder) true Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Occurrence Congenital true Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria (disorder) Is a Disorder of cerebral cortex (disorder) false Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Finding site Structure of frontal lobe gyrus (body structure) true Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 2
Bilateral frontoparietal polymicrogyria (disorder) Finding site Structure of parietal lobe gyrus (body structure) true Inferred relationship Some 2
Bilateral frontoparietal polymicrogyria (disorder) Occurrence Congenital true Inferred relationship Some 2
Bilateral frontoparietal polymicrogyria (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Bilateral frontoparietal polymicrogyria (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Is a Finding of head region false Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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