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Component

1279831004

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)

Shortest Term

Scn9a-related congenital insensitivity to pain

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

Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)

SCTID: 1279831004, Primitive, Active

1279831004|Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)|

en Congenital insensitivity to pain, anosmia, neuropathic arthropathy
en Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)
en Scn9a-related congenital insensitivity to pain
en Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain

Expression

1279831004 |Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)|
 <<< 128205005 |Hereditary sensory and autonomic neuropathy (disorder)| + 
230502003 |Congenital anosmia (disorder)| + 
298249004 |Finding of sensation of joint (finding)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
67536000 |Arthropathy associated with a neurological disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 47166007 |Structure of olfactory system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 2667000 |Absent (qualifier value)|,
363714003 |Interprets (attribute)| = 397686008 |Sense of smell, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 3057000 |Nerve structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 3058005 |Peripheral nervous system structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 39352004 |Joint structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 72167002 |Autonomic nervous system structure (body structure)| }
        { 42752001 |Due to (attribute)| = 118940003 |Disorder of nervous system (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5234015019 - Congenital insensitivity to pain, anosmia, neuropathic arthropathy (en) View
5234015019	en	Synonym (core metadata concept)	Congenital insensitivity to pain, anosmia, neuropathic arthropathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5234017010 - Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder) (en) View
5234017010	en	Fully specified name (core metadata concept)	Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5234016018 - SCN9A-related congenital insensitivity to pain (en) View
5234016018	en	Synonym (core metadata concept)	SCN9A-related congenital insensitivity to pain	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5234014015 - Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain (en) View
5234014015	en	Synonym (core metadata concept)	Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15614841028) - 1279831004 -> 128205005 (116680003) View
116680003 \|Is a (attribute)\|	128205005 \|Hereditary sensory and autonomic neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614842024) - 1279831004 -> 230502003 (116680003) View
116680003 \|Is a (attribute)\|	230502003 \|Congenital anosmia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614843025) - 1279831004 -> 298249004 (116680003) View
116680003 \|Is a (attribute)\|	298249004 \|Finding of sensation of joint (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614844020) - 1279831004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614845021) - 1279831004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614846022) - 1279831004 -> 67536000 (116680003) View
116680003 \|Is a (attribute)\|	67536000 \|Arthropathy associated with a neurological disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614847029) - 1279831004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614848023) - 1279831004 -> 118940003 (42752001) View
42752001 \|Due to (attribute)\|	118940003 \|Disorder of nervous system (disorder)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614849026) - 1279831004 -> 3057000 (363698007) View
363698007 \|Finding site (attribute)\|	3057000 \|Nerve structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614850026) - 1279831004 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614851027) - 1279831004 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614852023) - 1279831004 -> 72167002 (363698007) View
363698007 \|Finding site (attribute)\|	72167002 \|Autonomic nervous system structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614853029) - 1279831004 -> 397686008 (363714003) View
363714003 \|Interprets (attribute)\|	397686008 \|Sense of smell, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614854024) - 1279831004 -> 2667000 (363713009) View
363713009 \|Has interpretation (attribute)\|	2667000 \|Absent (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614855020) - 1279831004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614856021) - 1279831004 -> 47166007 (363698007) View
363698007 \|Finding site (attribute)\|	47166007 \|Structure of olfactory system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614857028) - 1279831004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15614858022) - 1279831004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
230502003 View
230502003	Congenital anosmia (disorder)	Congenital anosmia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
298249004 View
298249004	Finding of sensation of joint (finding)	Finding of sensation of joint	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
67536000 View
67536000	Arthropathy associated with a neurological disorder (disorder)	Neuropathic arthropathy	900000000000073002 \|Sufficiently defined by necessary conditions 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
128205005 View
128205005	Hereditary sensory and autonomic neuropathy (disorder)	Hsan	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (5e74faec-3ced-5bda-ac14-bdea20148873) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G60.8	TRUE	ALWAYS G60.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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