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Terminology chevron_right Concepts chevron_right 1953005

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Component

1953005

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital deficiency of pigment of skin (disorder)

Shortest Term

Congenital deficiency of pigment of 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 deficiency of pigment of skin (disorder)

SCTID: 1953005, Defined, Active

1953005|Congenital deficiency of pigment of skin (disorder)|

en Congenital deficiency of pigment of skin
en Congenital deficiency of pigment of skin (disorder)

Expression

1953005 |Congenital deficiency of pigment of skin (disorder)|
 === 23006000 |Hypopigmentation of skin (disorder)| + 
205564003 |Congenital pigmentary skin anomalies (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 89031001 |Hypopigmentation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4374015 - Congenital deficiency of pigment of skin (en) View
4374015	en	Synonym (core metadata concept)	Congenital deficiency of pigment of skin	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
747753014 - Congenital deficiency of pigment of skin (disorder) (en) View
747753014	en	Fully specified name (core metadata concept)	Congenital deficiency of pigment of skin (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4375019 - Congenital deficiency of pigment of skin, NOS (en) View
4375019	en	Synonym (core metadata concept)	Congenital deficiency of pigment of skin, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4973345024) - 1953005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023511025) - 1953005 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023512021) - 1953005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5833094025) - 1953005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5833095029) - 1953005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527664026) - 1953005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183847024) - 1953005 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2544513021) - 1953005 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6040234020) - 1953005 -> 205564003 (116680003) View
116680003 \|Is a (attribute)\|	205564003 \|Congenital pigmentary skin anomalies (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (720185022) - 1953005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3330054023) - 1953005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3454912020) - 1953005 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (720184021) - 1953005 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (720186023) - 1953005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2689187024) - 1953005 -> 23006000 (116680003) View
116680003 \|Is a (attribute)\|	23006000 \|Hypopigmentation of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (720183026) - 1953005 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1670284024) - 1953005 -> 59379005 (116680003) View
116680003 \|Is a (attribute)\|	59379005 \|Congenital pigmentary anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (179005021) - 1953005 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (179006022) - 1953005 -> 95324001 (116680003) View
116680003 \|Is a (attribute)\|	95324001 \|Skin lesion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
205564003 View
205564003	Congenital pigmentary skin anomalies (disorder)	Dị tật sắc tố da bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23006000 View
23006000	Hypopigmentation of skin (disorder)	Leucoderma	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1208985003 View
1208985003	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder)	Rhoa-related mosaic ectodermal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773984007 View
773984007	Piebald trait with neurologic defects syndrome (disorder)	Telfer sugar jaeger syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733069009 View
733069009	Deafness, vitiligo, achalasia syndrome (disorder)	Deafness, vitiligo, achalasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61649007 View
61649007	Congenital oculocutaneous hypopigmentation (disorder)	Congenital oculocutaneous hypopigmentation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
721084001 View
721084001	Deaf blind hypopigmentation syndrome yemenite type (disorder)	Warburg thomsen syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716174001 View
716174001	Oculocerebral hypopigmentation syndrome of preus type (disorder)	Oculocerebral hypopigmentation syndrome of preus	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718122005 View
718122005	Piebaldism (disorder)	Piebaldism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403807001 View
403807001	Phylloid hypomelanosis (disorder)	Phylloid hypomelanosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
47434006 View
47434006	Waardenburg's syndrome (disorder)	Waardenburg syndrome	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 (274df5e3-3fc9-5121-990b-ae313f90d5d0) 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)\|
ExtendedMap object (a23a70fe-b789-52bc-b0af-c278f200b62a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	K52.8	TRUE	ALWAYS K52.8	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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