1237365009: spectrum van aprosencefalie en atelencefalie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Abnormality of neurogenesis\Aprosencephaly/atelencephaly spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Aprosencephaly/atelencephaly spectrum

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

5098002015 Aprosencephaly/atelencephaly spectrum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5098003013 Aprosencephaly/atelencephaly spectrum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

13987501000146110 spectrum van aprosencefalie en atelencefalie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13987511000146112 spectrum van aprosencefalie en atelencefalie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5098004019 A group of rare central nervous system malformations with characteristics of varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aprosencephaly/atelencephaly spectrum	Is a	Abnormality of neurogenesis	true	Inferred relationship	Some
Aprosencephaly/atelencephaly spectrum	Is a	Disorder of embryonic structure (disorder)	false	Inferred relationship	Some
Aprosencephaly/atelencephaly spectrum	Is a	Congenital anomaly of cerebrum (disorder)	true	Inferred relationship	Some
Aprosencephaly/atelencephaly spectrum	Occurrence	Congenital	true	Inferred relationship	Some	1
Aprosencephaly/atelencephaly spectrum	Finding site	structuur van prosencephalon (lichaamsstructuur)	false	Inferred relationship	Some	1
Aprosencephaly/atelencephaly spectrum	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Aprosencephaly/atelencephaly spectrum	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Aprosencephaly/atelencephaly spectrum	Finding site	Cerebrum	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Atelencephaly	Is a	True	Aprosencephaly/atelencephaly spectrum	Inferred relationship	Some
Aprosencephaly	Is a	True	Aprosencephaly/atelencephaly spectrum	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5098002015	Aprosencephaly/atelencephaly spectrum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5098003013	Aprosencephaly/atelencephaly spectrum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13987501000146110	spectrum van aprosencefalie en atelencefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13987511000146112	spectrum van aprosencefalie en atelencefalie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5098004019	A group of rare central nervous system malformations with characteristics of varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core