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Terminology chevron_right Concepts chevron_right 72523005

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Component

72523005

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked ichthyosis with steryl-sulfatase deficiency (disorder)

Shortest Term

X-linked ichthyosis

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

X-linked ichthyosis with steryl-sulfatase deficiency (disorder)

SCTID: 72523005, Defined, Active

72523005|X-linked ichthyosis with steryl-sulfatase deficiency (disorder)|

en Sex-linked ichthyosis
en X-linked ichthyosis with steryl-sulfatase deficiency (disorder)
en X-linked ichthyosis with steryl-sulphatase deficiency
en X-linked ichthyosis
en X-linked ichthyosis with steryl-sulfatase deficiency

Expression

72523005 |X-linked ichthyosis with steryl-sulfatase deficiency (disorder)|
 === 13059002 |Congenital ichthyosis of skin (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| + 
3642008 |Disorder involving deficiency of steryl-sulfatase (ec 3.1.6.2) (disorder)| + 
1162976004 |X-linked recessive hereditary disease (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)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 44138005 |Keratinization, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
120467017 - Sex-linked ichthyosis (en) View
120467017	en	Synonym (core metadata concept)	Sex-linked ichthyosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
812810018 - X-linked ichthyosis with steryl-sulfatase deficiency (disorder) (en) View
812810018	en	Fully specified name (core metadata concept)	X-linked ichthyosis with steryl-sulfatase deficiency (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
502147010 - X-linked ichthyosis with steryl-sulphatase deficiency (en) View
502147010	en	Synonym (core metadata concept)	X-linked ichthyosis with steryl-sulphatase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
200289014 - X-linked ichthyosis (en) View
200289014	en	Synonym (core metadata concept)	X-linked ichthyosis	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
200290017 - X-linked ichthyosis with steryl-sulfatase deficiency (en) View
200290017	en	Synonym (core metadata concept)	X-linked ichthyosis with steryl-sulfatase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (266011023) - 72523005 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14022209028) - 72523005 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3298718026) - 72523005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12094853027) - 72523005 -> 181469002 (363698007) View
363698007 \|Finding site (attribute)\|	181469002 \|Entire skin (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265563027) - 72523005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265564022) - 72523005 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (854784021) - 72523005 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973384025) - 72523005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973385029) - 72523005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4996670025) - 72523005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524620026) - 72523005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524622023) - 72523005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10608701020) - 72523005 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (854783026) - 72523005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3298717020) - 72523005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1776799027) - 72523005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2600757026) - 72523005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (854785022) - 72523005 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (266010024) - 72523005 -> 13059002 (116680003) View
116680003 \|Is a (attribute)\|	13059002 \|Congenital ichthyosis of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (266012027) - 72523005 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (266013021) - 72523005 -> 3642008 (116680003) View
116680003 \|Is a (attribute)\|	3642008 \|Disorder involving deficiency of steryl-sulfatase (ec 3.1.6.2) (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
13059002 View
13059002	Congenital ichthyosis of skin (disorder)	Fish skin	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
3642008 View
3642008	Disorder involving deficiency of steryl-sulfatase (ec 3.1.6.2) (disorder)	Arylsulfatase c deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
717041008 View
717041008	Syndromic recessive x-linked ichthyosis (disorder)	Syndromic x-linked ichthyosis	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 (e61e2875-2297-5c9b-ab91-ab7ef4557d37) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q80.1	TRUE	ALWAYS Q80.1	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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