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Terminology chevron_right Concepts chevron_right 70041004

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Component

70041004

The component that hold information about this concept.

Fully Specified Name (FSN)

Erythrokeratodermia variabilis (disorder)

Shortest Term

Congenital poikiloderma

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

Erythrokeratodermia variabilis (disorder)

SCTID: 70041004, Primitive, Active

70041004|Erythrokeratodermia variabilis (disorder)|

en Congenital poikiloderma
en Erythrokeratodermia variabilis
en Erythrokeratodermia variabilis (disorder)
en Mendes da costa syndrome

Expression

70041004 |Erythrokeratodermia variabilis (disorder)|
 <<< 13059002 |Congenital ichthyosis of skin (disorder)| + 
6874009 |Congenital keratoderma (disorder)| + 
1899006 |Autosomal hereditary 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)| }
        { 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
1233217010 - Congenital poikiloderma (en) View
1233217010	en	Synonym (core metadata concept)	Congenital poikiloderma	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
116327014 - Erythrokeratodermia variabilis (en) View
116327014	en	Synonym (core metadata concept)	Erythrokeratodermia variabilis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
810054016 - Erythrokeratodermia variabilis (disorder) (en) View
810054016	en	Fully specified name (core metadata concept)	Erythrokeratodermia variabilis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1233218017 - Mendes da Costa syndrome (en) View
1233218017	en	Synonym (core metadata concept)	Mendes da Costa syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11265249023) - 70041004 -> 782957005 (116680003) View
116680003 \|Is a (attribute)\|	782957005 \|Ichthyosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089828025) - 70041004 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13070039025) - 70041004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13882176023) - 70041004 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13882182021) - 70041004 -> 13059002 (116680003) View
116680003 \|Is a (attribute)\|	13059002 \|Congenital ichthyosis of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (261955026) - 70041004 -> 254215005 (116680003) View
116680003 \|Is a (attribute)\|	254215005 \|Erythrokeratoderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094167029) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089825027) - 70041004 -> 181469002 (363698007) View
363698007 \|Finding site (attribute)\|	181469002 \|Entire skin (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089826026) - 70041004 -> 6874009 (116680003) View
116680003 \|Is a (attribute)\|	6874009 \|Congenital keratoderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089827024) - 70041004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089829022) - 70041004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9064443028) - 70041004 -> 95320005 (116680003) View
116680003 \|Is a (attribute)\|	95320005 \|Disorder of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1776015026) - 70041004 -> 69707008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	69707008 \|Abnormal keratinization (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9181375020) - 70041004 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9181376021) - 70041004 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5032019020) - 70041004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032020025) - 70041004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032021026) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (848538027) - 70041004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1776014027) - 70041004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3094168023) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980134027) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2980135026) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915260025) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2915261026) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822367022) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2822368028) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675459022) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2675460028) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (848537021) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2527526021) - 70041004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (261954027) - 70041004 -> 95324001 (116680003) View
116680003 \|Is a (attribute)\|	95324001 \|Skin lesion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (848539024) - 70041004 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	1	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
6874009 View
6874009	Congenital keratoderma (disorder)	Congenital keratoderma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1899006 View
1899006	Autosomal hereditary disorder (disorder)	Autosomal hereditary disorder	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 (1804f62d-6713-5d45-9820-be2dfb524d70) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8	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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