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816068000: Periventricular nodular heterotopia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3850118012 Periventricular nodular heterotopia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3850119016 Periventricular nodular heterotopia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3850120010 PVNH - periventricular nodular heterotopia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3850121014 A brain malformation due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical periventricular nodular heterotopia is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. 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
Periventricular nodular heterotopia Is a Nodular heterotopia true Inferred relationship Some
Periventricular nodular heterotopia Is a Hereditary disorder of nervous system true Inferred relationship Some
Periventricular nodular heterotopia Finding site Brain tissue structure false Inferred relationship Some 1
Periventricular nodular heterotopia Occurrence Congenital true Inferred relationship Some 1
Periventricular nodular heterotopia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Periventricular nodular heterotopia Associated morphology Neuronal heterotopia (morphologic abnormality) true Inferred relationship Some 1
Periventricular nodular heterotopia Is a Developmental hereditary disorder true Inferred relationship Some
Periventricular nodular heterotopia Finding site Brain structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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