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Terminology chevron_right Concepts chevron_right 2355008

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Component

2355008

The component that hold information about this concept.

Fully Specified Name (FSN)

Rud's syndrome (disorder)

Shortest Term

Rud 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

Rud's syndrome (disorder)

SCTID: 2355008, Primitive, Active

2355008|Rud's syndrome (disorder)|

en Dwarfism-ichthyosiform erythroderma-mental deficiency syndrome
en Rud syndrome
en Rud's syndrome (disorder)
en Rud's syndrome

Expression

2355008 |Rud's syndrome (disorder)|
 <<< 81308009 |Disorder of brain (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
13059002 |Congenital ichthyosis of skin (disorder)| + 
237836003 |Short stature disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 26996000 |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)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 44138005 |Keratinization, function (observable entity)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5042014 - Dwarfism-ichthyosiform erythroderma-mental deficiency syndrome (en) View
5042014	en	Synonym (core metadata concept)	Dwarfism-ichthyosiform erythroderma-mental deficiency syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2837786015 - Rud syndrome (en) View
2837786015	en	Synonym (core metadata concept)	Rud syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
753084013 - Rud's syndrome (disorder) (en) View
753084013	en	Fully specified name (core metadata concept)	Rud's syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5041019 - Rud's syndrome (en) View
5041019	en	Synonym (core metadata concept)	Rud's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11265244029) - 2355008 -> 118228005 (116680003) View
116680003 \|Is a (attribute)\|	118228005 \|Functional finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13280428026) - 2355008 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3548333025) - 2355008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12064657024) - 2355008 -> 181469002 (363698007) View
363698007 \|Finding site (attribute)\|	181469002 \|Entire skin (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (730967022) - 2355008 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578585027) - 2355008 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578586026) - 2355008 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (186407026) - 2355008 -> 76011009 (116680003) View
116680003 \|Is a (attribute)\|	76011009 \|Non-specific brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973013022) - 2355008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973014027) - 2355008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4996483024) - 2355008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9618172024) - 2355008 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534138023) - 2355008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534139026) - 2355008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10608811024) - 2355008 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3337666027) - 2355008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3520690027) - 2355008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4598331022) - 2355008 -> 280128006 (116680003) View
116680003 \|Is a (attribute)\|	280128006 \|Disorder of soft tissue of body cavity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3337667020) - 2355008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3337668026) - 2355008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (186408020) - 2355008 -> 185797004 (116680003) View
116680003 \|Is a (attribute)\|	185797004 \|Dwarfism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3272845024) - 2355008 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3272846020) - 2355008 -> 13059002 (116680003) View
116680003 \|Is a (attribute)\|	13059002 \|Congenital ichthyosis of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3272847027) - 2355008 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
13059002 View
13059002	Congenital ichthyosis of skin (disorder)	Fish skin	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
81308009 View
81308009	Disorder of brain (disorder)	Encephalopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (1f450392-c3b7-5e6a-ad20-ebd16d2d77c9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.2	TRUE	ALWAYS Q78.2	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)\|
ExtendedMap object (8344b1dd-73ed-52c3-b81c-58ca39d1b6cd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F79.9	TRUE	ALWAYS F79.9 \| 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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