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Terminology chevron_right Concepts chevron_right 733028000

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Component

733028000

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple sclerosis, ichthyosis, factor viii deficiency syndrome (disorder)

Shortest Term

Multiple sclerosis, ichthyosis, factor viii deficiency syndrome

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

Multiple sclerosis, ichthyosis, factor viii deficiency syndrome (disorder)

SCTID: 733028000, Primitive, Active

733028000|Multiple sclerosis, ichthyosis, factor viii deficiency syndrome (disorder)|

en Multiple sclerosis, ichthyosis, factor viii deficiency syndrome
en Multiple sclerosis, ichthyosis, factor viii deficiency syndrome (disorder)

Expression

733028000 |Multiple sclerosis, ichthyosis, factor viii deficiency syndrome (disorder)|
 <<< 363138005 |Hereditary disorder of immune system (disorder)| + 
205550003 |Lamellar ichthyosis (disorder)| + 
128236002 |Chronic disease of skin (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
128124001 |Congenital anomaly of central nervous system (disorder)| + 
16922007 |Hereditary coagulation factor deficiency (disorder)| + 
24700007 |Multiple sclerosis (disorder)| + 
95477007 |Congenital degeneration of nervous system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 32693004 |Demyelination (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 773635001 |Proliferative hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 181469002 |Entire skin (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 74848003 |Hemostatic function (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 44138005 |Keratinization, function (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 32693004 |Demyelination (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 409774005 |Inflammatory morphology (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 90734009 |Chronic (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3498599011 - Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (en) View
3498599011	en	Synonym (core metadata concept)	Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3498600014 - Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (disorder) (en) View
3498600014	en	Fully specified name (core metadata concept)	Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16245934023) - 733028000 -> 128236002 (116680003) View
116680003 \|Is a (attribute)\|	128236002 \|Chronic disease of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16245935024) - 733028000 -> 90734009 (263502005) View
263502005 \|Clinical course (attribute)\|	90734009 \|Chronic (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978937021) - 733028000 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6980408021) - 733028000 -> 32693004 (116676008) View
116676008 \|Associated morphology (attribute)\|	32693004 \|Demyelination (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6980409029) - 733028000 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528871021) - 733028000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12092389028) - 733028000 -> 181469002 (363698007) View
363698007 \|Finding site (attribute)\|	181469002 \|Entire skin (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092390021) - 733028000 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092391020) - 733028000 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092392029) - 733028000 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092393023) - 733028000 -> 95477007 (116680003) View
116680003 \|Is a (attribute)\|	95477007 \|Congenital degeneration of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092394028) - 733028000 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092395027) - 733028000 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092396026) - 733028000 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265021023) - 733028000 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11289593020) - 733028000 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11289594025) - 733028000 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11289595029) - 733028000 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978938027) - 733028000 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6978939024) - 733028000 -> 450426006 (246454002) View
246454002 \|Occurrence (attribute)\|	450426006 \|Fetal or neonatal period (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6978941020) - 733028000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6978944028) - 733028000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6978945027) - 733028000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6978947024) - 733028000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6980411022) - 733028000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6995976025) - 733028000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6995977023) - 733028000 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9381023024) - 733028000 -> 25904003 (116680003) View
116680003 \|Is a (attribute)\|	25904003 \|Acquired coagulation factor deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528861024) - 733028000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528862028) - 733028000 -> 128124001 (116680003) View
116680003 \|Is a (attribute)\|	128124001 \|Congenital anomaly of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528864027) - 733028000 -> 32693004 (116676008) View
116676008 \|Associated morphology (attribute)\|	32693004 \|Demyelination (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528867023) - 733028000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528868029) - 733028000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528869021) - 733028000 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528870022) - 733028000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10608766028) - 733028000 -> 773635001 (116676008) View
116676008 \|Associated morphology (attribute)\|	773635001 \|Proliferative hyperkeratosis (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978934025) - 733028000 -> 16922007 (116680003) View
116680003 \|Is a (attribute)\|	16922007 \|Hereditary coagulation factor deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978935029) - 733028000 -> 24700007 (116680003) View
116680003 \|Is a (attribute)\|	24700007 \|Multiple sclerosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6978936028) - 733028000 -> 205550003 (116680003) View
116680003 \|Is a (attribute)\|	205550003 \|Lamellar ichthyosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
16922007 View
16922007	Hereditary coagulation factor deficiency (disorder)	Thiếu hụt yếu tố đông máu di truyền	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
24700007 View
24700007	Multiple sclerosis (disorder)	Đa xơ cứng	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
95477007 View
95477007	Congenital degeneration of nervous system (disorder)	Congenital neurological degeneration	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128124001 View
128124001	Congenital anomaly of central nervous system (disorder)	Congenital anomaly of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128236002 View
128236002	Chronic disease of skin (disorder)	Chronic dermatosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205550003 View
205550003	Lamellar ichthyosis (disorder)	Collodion baby	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363138005 View
363138005	Hereditary disorder of immune system (disorder)	Hereditary disorder of immune 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 (578be6a3-be2c-555e-890b-07911c155044) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D66	TRUE	ALWAYS D66	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)\|
ExtendedMap object (89e3aa02-50fe-593e-ad95-a9aa01314570) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G37.8	TRUE	ALWAYS G37.8 \| 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)\|
ExtendedMap object (c46bf1f7-0b67-511b-ab01-ef448458faba) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q80.2	TRUE	ALWAYS Q80.2	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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