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Terminology chevron_right Concepts chevron_right 13059002

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Component

13059002

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital ichthyosis of skin (disorder)

Shortest Term

Fish skin

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

Congenital ichthyosis of skin (disorder)

SCTID: 13059002, Defined, Active

13059002|Congenital ichthyosis of skin (disorder)|

en Congenital ichthyosis
en Congenital ichthyosis of skin
en Congenital ichthyosis of skin (disorder)
en Fish scale disease
en Fish skin
en Ichthyosis congenita

Expression

13059002 |Congenital ichthyosis of skin (disorder)|
 === 363070008 |Developmental hereditary disorder (disorder)| + 
239001006 |Genodermatosis (disorder)| + 
782957005 |Ichthyosis (disorder)| + 
254214009 |Inherited disorder of keratinization (disorder)| + 
816995008 |Rough skin (finding)| : 
        { 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
22361011 - Ichthyosis (en) View
22361011	en	Synonym (core metadata concept)	Ichthyosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
22357017 - Congenital ichthyosis (en) View
22357017	en	Synonym (core metadata concept)	Congenital ichthyosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
22354012 - Congenital ichthyosis of skin (en) View
22354012	en	Synonym (core metadata concept)	Congenital ichthyosis of skin	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
734885013 - Congenital ichthyosis of skin (disorder) (en) View
734885013	en	Fully specified name (core metadata concept)	Congenital ichthyosis of skin (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
22358010 - Fish scale disease (en) View
22358010	en	Synonym (core metadata concept)	Fish scale disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
22362016 - Fish skin (en) View
22362016	en	Synonym (core metadata concept)	Fish skin	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
22356014 - Ichthyosis congenita (en) View
22356014	en	Synonym (core metadata concept)	Ichthyosis congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
22355013 - Congenital ichthyosis of skin, NOS (en) View
22355013	en	Synonym (core metadata concept)	Congenital ichthyosis of skin, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
22360012 - Fish skin, NOS (en) View
22360012	en	Synonym (core metadata concept)	Fish skin, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
22359019 - Ichthyosis, NOS (en) View
22359019	en	Synonym (core metadata concept)	Ichthyosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069778027) - 13059002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12830338029) - 13059002 -> 816995008 (116680003) View
116680003 \|Is a (attribute)\|	816995008 \|Rough skin (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5857463027) - 13059002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12060127022) - 13059002 -> 181469002 (363698007) View
363698007 \|Finding site (attribute)\|	181469002 \|Entire skin (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (165742029) - 13059002 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (165743023) - 13059002 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11265361029) - 13059002 -> 239001006 (116680003) View
116680003 \|Is a (attribute)\|	239001006 \|Genodermatosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265362020) - 13059002 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265363026) - 13059002 -> 782957005 (116680003) View
116680003 \|Is a (attribute)\|	782957005 \|Ichthyosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265364021) - 13059002 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265365022) - 13059002 -> 254214009 (116680003) View
116680003 \|Is a (attribute)\|	254214009 \|Inherited disorder of keratinization (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4974197026) - 13059002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4974198020) - 13059002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997146022) - 13059002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5857462021) - 13059002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516584027) - 13059002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10608599028) - 13059002 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (699532020) - 13059002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3335525024) - 13059002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3335526020) - 13059002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1756685023) - 13059002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2590698029) - 13059002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (699531029) - 13059002 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2225044025) - 13059002 -> 238907001 (116680003) View
116680003 \|Is a (attribute)\|	238907001 \|Site-specific disorder of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
816995008 View
816995008	Rough skin (finding)	Rough skin	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254214009 View
254214009	Inherited disorder of keratinization (disorder)	Inherited disorder of keratinisation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782957005 View
782957005	Ichthyosis (disorder)	Ichthyosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
239001006 View
239001006	Genodermatosis (disorder)	Genodermatosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1197059004 View
1197059004	Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Congenital ichthyosis, microcephalus, tetraplegia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70041004 View
70041004	Erythrokeratodermia variabilis (disorder)	Congenital poikiloderma	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238627002 View
238627002	Follicular ichthyosis (disorder)	Follicular ichthyosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
72523005 View
72523005	X-linked ichthyosis with steryl-sulfatase deficiency (disorder)	X-linked ichthyosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
402770002 View
402770002	Autosomal dominant ichthyosis (disorder)	Autosomal dominant ichthyosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
402772005 View
402772005	Autosomal recessive ichthyosis (disorder)	Autosomal recessive ichthyosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
765471005 View
765471005	X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome (disorder)	Young hughes syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724837004 View
724837004	Keratinopathic ichthyosis (disorder)	Keratinopathic ichthyosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722114007 View
722114007	Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome (disorder)	Osteosclerosis, ichthyosis, premature ovarian failure syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
2355008 View
2355008	Rud's syndrome (disorder)	Rud syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68551007 View
68551007	Limb reduction-ichthyosis syndrome (disorder)	Limb reduction-ichthyosis syndrome	900000000000074008 \|Necessary but not sufficient concept 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
235916001 View
235916001	Ichthyosis congenita with biliary atresia (disorder)	Bệnh vẩy cá bẩm sinh với tịt đường mật	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239057002 View
239057002	Cutaneous syndrome with ichthyosis (disorder)	Cutaneous syndrome with ichthyosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254157005 View
254157005	Ichthyosis vulgaris (disorder)	Ichthyosis vulgaris	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254159008 View
254159008	Severe ichthyoses (disorder)	Severe ichthyoses	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
267372009 View
267372009	Congenital non bullous ichthyosiform erythroderma (disorder)	Congenital non bullous ichthyosiform erythroderma	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 (e9270526-f309-5aaa-8e9e-3e6e7869641d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q80.9	TRUE	ALWAYS Q80.9	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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