816068000: Periventricular nodular heterotopia (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Lesion of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Neurological lesion\Neuronal heterotopia\Nodular heterotopia\Periventricular nodular heterotopia

\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Neuronal heterotopia\Nodular heterotopia\Periventricular nodular heterotopia
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Lesion of brain\Nodular heterotopia\Periventricular nodular heterotopia

\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disorder of head\Encephalopathy\Lesion of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Periventricular nodular heterotopia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Periventricular nodular heterotopia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Periventricular nodular heterotopia
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Periventricular nodular heterotopia
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Neuronal heterotopia\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Neuronal heterotopia\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Neuronal heterotopia\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Developmental disorder\Developmental hereditary disorder\Periventricular nodular heterotopia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Neuronal heterotopia\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Nodular heterotopia\Periventricular nodular heterotopia

Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3850118012 Periventricular nodular heterotopia en Synonym Active Case insensitive SNOMED CT core

3850119016 Periventricular nodular heterotopia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3850120010 PVNH - periventricular nodular heterotopia en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

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	true	Inferred relationship	Some	1
Periventricular nodular heterotopia	Occurrence	Congenital	true	Inferred relationship	Some	1
Periventricular nodular heterotopia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Periventricular nodular heterotopia	Associated morphology	Neuronal heterotopia	true	Inferred relationship	Some	1
Periventricular nodular heterotopia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3850118012	Periventricular nodular heterotopia	en	Synonym	Active	Case insensitive	SNOMED CT core
3850119016	Periventricular nodular heterotopia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3850120010	PVNH - periventricular nodular heterotopia	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core