1237366005: Aprosencephaly cerebellar dysgenesis (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Genetic disease\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Disorder of midbrain (disorder)\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum\Aprosencephaly\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Aprosencephaly cerebellar dysgenesis
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Aprosencephaly cerebellar dysgenesis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5098005018	Aprosencephaly cerebellar dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5098006017	Aprosencephaly cerebellar dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400273019	A rare genetic non-syndromic central nervous system malformation characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400274013	A rare genetic non-syndromic central nervous system malformation characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5098005018	Aprosencephaly cerebellar dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5098006017	Aprosencephaly cerebellar dysgenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400273019	A rare genetic non-syndromic central nervous system malformation characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400274013	A rare genetic non-syndromic central nervous system malformation characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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