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Terminology chevron_right Concepts chevron_right 95477007

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Component

95477007

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital degeneration of nervous system (disorder)

Shortest Term

Congenital neurological degeneration

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital degeneration of nervous system (disorder)

SCTID: 95477007, Defined, Active

95477007|Congenital degeneration of nervous system (disorder)|

en Congenital degeneration of nervous system
en Congenital degeneration of nervous system (disorder)
en Congenital neurological degeneration

Expression

95477007 |Congenital degeneration of nervous system (disorder)|
 === 88425004 |Congenital anomaly of nervous system (disorder)| + 
362975008 |Degenerative disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
158152012 - Congenital degeneration of nervous system (en) View
158152012	en	Synonym (core metadata concept)	Congenital degeneration of nervous system	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
839638015 - Congenital degeneration of nervous system (disorder) (en) View
839638015	en	Fully specified name (core metadata concept)	Congenital degeneration of nervous system (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
158155014 - Congenital neurological degeneration (en) View
158155014	en	Synonym (core metadata concept)	Congenital neurological degeneration	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
158153019 - Congenital degeneration of nervous system, NOS (en) View
158153019	en	Synonym (core metadata concept)	Congenital degeneration of nervous system, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
158154013 - Congenital neurological degeneration, NOS (en) View
158154013	en	Synonym (core metadata concept)	Congenital neurological degeneration, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10515827022) - 95477007 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12097215020) - 95477007 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (929721028) - 95477007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4975058029) - 95477007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975059021) - 95477007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975060027) - 95477007 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975061028) - 95477007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4985002025) - 95477007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4985003024) - 95477007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515828028) - 95477007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515829020) - 95477007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (929720027) - 95477007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3412434026) - 95477007 -> 64464000 (116676008) View
116676008 \|Associated morphology (attribute)\|	64464000 \|Congenital degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3412435025) - 95477007 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975056025) - 95477007 -> 362975008 (116680003) View
116680003 \|Is a (attribute)\|	362975008 \|Degenerative disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (929722024) - 95477007 -> 64464000 (116676008) View
116676008 \|Associated morphology (attribute)\|	64464000 \|Congenital degeneration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (307247026) - 95477007 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
88425004 View
88425004	Congenital anomaly of nervous system (disorder)	Dị tật bẩm sinh của hệ thần kinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
362975008 View
362975008	Degenerative disorder (disorder)	Degenerative disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1228871002 View
1228871002	Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder)	Pcna-related progressive neurodegenerative photosensitivity syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003447007 View
1003447007	Pelizaeus-merzbacher disease null syndrome (disorder)	Null syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003881009 View
1003881009	Pelizaeus-merzbacher disease in female carrier (disorder)	Pelizaeus-merzbacher disease in female carrier	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770625006 View
770625006	Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Roifman chitayat syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763722004 View
763722004	Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Hypotonia, speech impairment, severe cognitive delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765325002 View
765325002	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease (disorder)	Neurologic waardenburg shah syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723830005 View
723830005	Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)	Keratosis follicularis, dwarfism, cerebral atrophy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726031001 View
726031001	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Camos syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733028000 View
733028000	Multiple sclerosis, ichthyosis, factor viii deficiency syndrome (disorder)	Multiple sclerosis, ichthyosis, factor viii deficiency syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733033001 View
733033001	Spinocerebellar ataxia dysmorphism syndrome (disorder)	Spinocerebellar ataxia dysmorphism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733049004 View
733049004	Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Bonnemann meinecke reich syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719833004 View
719833004	Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720816004 View
720816004	Craniosynostosis and intracranial calcification syndrome (disorder)	Longman tolmie syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722213009 View
722213009	Severe x-linked intellectual disability gustavson type (disorder)	Severe x-linked intellectual disability gustavson type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
703526007 View
703526007	Neuronal ceroid lipofuscinosis 8 (disorder)	Northern epilepsy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
59636002 View
59636002	Pelizaeus-merzbacher disease, connatal variant (disorder)	Pelizaeus-merzbacher disease, connatal variant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (4eb916f7-788e-5afb-89d8-a2a78c5a318a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q07.9	TRUE	ALWAYS Q07.9	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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