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Terminology chevron_right Concepts chevron_right 64383006

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Component

64383006

The component that hold information about this concept.

Fully Specified Name (FSN)

Werdnig-hoffmann disease (disorder)

Shortest Term

Werdnig-hoffmann disease

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

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

Summary

Werdnig-hoffmann disease (disorder)

SCTID: 64383006, Primitive, Active

64383006|Werdnig-hoffmann disease (disorder)|

en Infantile spinal muscular atrophy
en Progressive muscular atrophy of infancy
en Werdnig-hoffmann disease (disorder)
en Whd - werdnig-hoffmann disease
en Spinal muscular atrophy type i
en Spinal muscular atrophy, type i
en Werdnig-hoffmann disease

Expression

64383006 |Werdnig-hoffmann disease (disorder)|
 <<< 5262007 |Spinal muscular atrophy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
85672005 |Anterior horn cell disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
107018015 - Infantile spinal muscular atrophy (en) View
107018015	en	Synonym (core metadata concept)	Infantile spinal muscular atrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
107019011 - Progressive muscular atrophy of infancy (en) View
107019011	en	Synonym (core metadata concept)	Progressive muscular atrophy of infancy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
803770017 - Werdnig-Hoffmann disease (disorder) (en) View
803770017	en	Fully specified name (core metadata concept)	Werdnig-Hoffmann disease (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1232558014 - WHD - Werdnig-Hoffmann disease (en) View
1232558014	en	Synonym (core metadata concept)	WHD - Werdnig-Hoffmann disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1232557016 - Spinal muscular atrophy type I (en) View
1232557016	en	Synonym (core metadata concept)	Spinal muscular atrophy type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
199235017 - Spinal muscular atrophy, type I (en) View
199235017	en	Synonym (core metadata concept)	Spinal muscular atrophy, type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
107017013 - Werdnig-Hoffmann disease (en) View
107017013	en	Synonym (core metadata concept)	Werdnig-Hoffmann disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16085255027) - 64383006 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2268861028) - 64383006 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (535683020) - 64383006 -> 31513005 (363698007) View
363698007 \|Finding site (attribute)\|	31513005 \|Motor neuron (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2038007023) - 64383006 -> 85672005 (116680003) View
116680003 \|Is a (attribute)\|	85672005 \|Anterior horn cell disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (535682026) - 64383006 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (252857021) - 64383006 -> 5262007 (116680003) View
116680003 \|Is a (attribute)\|	5262007 \|Spinal muscular atrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (252858027) - 64383006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
5262007 View
5262007	Spinal muscular atrophy (disorder)	Spinal muscular atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85672005 View
85672005	Anterior horn cell disease (disorder)	Bệnh tế bào sừng trước	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (92b55a22-da93-59a0-9077-7e7a955f6286) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G12.0	TRUE	ALWAYS G12.0	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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