128124001: Congenital anomaly of central nervous system (disorder)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of central nervous system	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Congenital anomaly of central nervous system	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Some
Congenital anomaly of central nervous system	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of central nervous system	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of central nervous system	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital anomaly of central nervous system	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectopic gray matter	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Central nervous system malformation in fetus affecting obstetrical care	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Craniorachischisis	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of brain	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Amyelencephalus (disorder)	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of spinal cord (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of optic nerve	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Disorder of neuronal migration and differentiation	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital malformation of the meninges	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Cockayne syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
hydromeningocele	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Ectopic glial tissue	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Ecchordosis physaliphora	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital adhesions of cerebral meninges	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Persistent cerebral embryonic artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Cerebral arteriovenous malformation	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Cilioretinal artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Bregeat's syndrome	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital cerebral arteriovenous aneurysm (disorder)	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of cerebral artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital aneurysm of anterior communicating artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Vein of Galen malformation (disorder)	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of organ of Corti	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of brain	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Dural arteriovenous malformation	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital arteriovenous fistula of brain	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital aneurysm of anterior communicating artery	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital anomaly of cerebrovascular system	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
foster med missbildning i centrala nervsystemet	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Amyelencephalus (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Disorder of neuronal migration and differentiation	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Schisis association syndrome (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Cerebrooculonasal syndrome (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Isotretinoin embryopathy-like syndrome (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
syndrom med cerebral gigantism och käkcystor	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Congenital absence of optic chiasma (disorder)	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Oro-facial digital syndrome type 12	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
SCALP syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)	Is a	False	Congenital anomaly of central nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease null syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Hypoplasia of optic nerve due to central nervous system malformation	Due to	True	Congenital anomaly of central nervous system	Inferred relationship	Some	2
Pelizaeus-Merzbacher disease in female carrier	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Pseudoprogeria syndrome (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
TBCK-related intellectual disability syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
RERE-related neurodevelopmental syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Myelinated nerve fiber layer of retina	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some
Triopia	Is a	True	Congenital anomaly of central nervous system	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
194718019	Congenital anomaly of central nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
732087017	Congenital anomaly of central nervous system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006521014	Congenital malformation of central nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2072031000052117	medfödd anomali i centrala nervsystemet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)