1237366005: Aprosencephaly cerebellar dysgenesis (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Finding of brain\Encephalopathy\Disorder of brain stem\Disorder of midbrain\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of brain stem\Disorder of midbrain\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis

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

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis

\Disorder of brain stem\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disorder of brain stem\Disorder of midbrain\Aprosencephaly cerebellar dysgenesis

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Encephalopathy\Disorder of brain stem\Disorder of midbrain\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis

\Disease\Genetic disease\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of embryonic structure\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of brain stem\Disorder of midbrain\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Encephalopathy\Disorder of brain stem\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Encephalopathy\Disorder of brain stem\Disorder of midbrain\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5098005018 Aprosencephaly cerebellar dysgenesis en Synonym Active Case insensitive SNOMED CT core

5098006017 Aprosencephaly cerebellar dysgenesis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5098007014 A rare genetic non-syndromic central nervous system malformation with characteristics of absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aprosencephaly cerebellar dysgenesis	Is a	Dysgenesis of the cerebellum	true	Inferred relationship	Some
Aprosencephaly cerebellar dysgenesis	Is a	Dysgenesis of the brainstem	true	Inferred relationship	Some
Aprosencephaly cerebellar dysgenesis	Is a	Congenital absence of part of brain	true	Inferred relationship	Some
Aprosencephaly cerebellar dysgenesis	Is a	Aprosencephaly	true	Inferred relationship	Some
Aprosencephaly cerebellar dysgenesis	Is a	Genetic disease	true	Inferred relationship	Some
Aprosencephaly cerebellar dysgenesis	Is a	Disorder of midbrain	true	Inferred relationship	Some
Aprosencephaly cerebellar dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	1
Aprosencephaly cerebellar dysgenesis	Finding site	Structure of telencephalon	true	Inferred relationship	Some	1
Aprosencephaly cerebellar dysgenesis	Associated morphology	Absence	true	Inferred relationship	Some	1
Aprosencephaly cerebellar dysgenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Aprosencephaly cerebellar dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	2
Aprosencephaly cerebellar dysgenesis	Finding site	Cerebellar structure	true	Inferred relationship	Some	2
Aprosencephaly cerebellar dysgenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Aprosencephaly cerebellar dysgenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Aprosencephaly cerebellar dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	3
Aprosencephaly cerebellar dysgenesis	Finding site	Midbrain structure	true	Inferred relationship	Some	3
Aprosencephaly cerebellar dysgenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Aprosencephaly cerebellar dysgenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Aprosencephaly cerebellar dysgenesis	Occurrence	Congenital	true	Inferred relationship	Some	4
Aprosencephaly cerebellar dysgenesis	Finding site	Structure of diencephalon	true	Inferred relationship	Some	4
Aprosencephaly cerebellar dysgenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Aprosencephaly cerebellar dysgenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
5098005018	Aprosencephaly cerebellar dysgenesis	en	Synonym	Active	Case insensitive	SNOMED CT core
5098006017	Aprosencephaly cerebellar dysgenesis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5098007014	A rare genetic non-syndromic central nervous system malformation with characteristics of absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.	en	Definition	Active	Case sensitive	SNOMED CT core