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Terminology chevron_right Concepts chevron_right 205548006

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Component

205548006

The component that hold information about this concept.

Fully Specified Name (FSN)

Harlequin ichthyosis (disorder)

Shortest Term

Harlequin fetus

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

Harlequin ichthyosis (disorder)

SCTID: 205548006, Defined, Active

205548006|Harlequin ichthyosis (disorder)|

en Harlequin ichthyosis
en Harlequin ichthyosis (disorder)

Expression

205548006 |Harlequin ichthyosis (disorder)|
 === 402772005 |Autosomal recessive ichthyosis (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
204647002 |Congenital ectropion of lip (disorder)| + 
26590002 |Congenital ectropion (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)| }
        { 116676008 |Associated morphology (attribute)| = 4196002 |Eversion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 48477009 |Lip structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 4196002 |Eversion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 80243003 |Eyelid structure (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
315210011 - Harlequin ichthyosis (en) View
315210011	en	Synonym (core metadata concept)	Harlequin ichthyosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
590932010 - Harlequin ichthyosis (disorder) (en) View
590932010	en	Fully specified name (core metadata concept)	Harlequin ichthyosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
315211010 - Harlequin fetus (en) View
315211010	en	Synonym (core metadata concept)	Harlequin fetus	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3378609025) - 205548006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11265215026) - 205548006 -> 91158006 (116680003) View
116680003 \|Is a (attribute)\|	91158006 \|Congenital anomaly of eyelid (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11411289021) - 205548006 -> 62909004 (116680003) View
116680003 \|Is a (attribute)\|	62909004 \|Ectropion of eyelid (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12067678028) - 205548006 -> 26590002 (116680003) View
116680003 \|Is a (attribute)\|	26590002 \|Congenital ectropion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12067679020) - 205548006 -> 181469002 (363698007) View
363698007 \|Finding site (attribute)\|	181469002 \|Entire skin (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (23822026) - 205548006 -> 13059002 (116680003) View
116680003 \|Is a (attribute)\|	13059002 \|Congenital ichthyosis of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4975002021) - 205548006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265203025) - 205548006 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265204020) - 205548006 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265209026) - 205548006 -> 4196002 (116676008) View
116676008 \|Associated morphology (attribute)\|	4196002 \|Eversion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265210020) - 205548006 -> 204647002 (116680003) View
116680003 \|Is a (attribute)\|	204647002 \|Congenital ectropion of lip (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265211024) - 205548006 -> 402772005 (116680003) View
116680003 \|Is a (attribute)\|	402772005 \|Autosomal recessive ichthyosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265214027) - 205548006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265217023) - 205548006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570777024) - 205548006 -> 4196002 (116676008) View
116676008 \|Associated morphology (attribute)\|	4196002 \|Eversion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570778025) - 205548006 -> 80243003 (363698007) View
363698007 \|Finding site (attribute)\|	80243003 \|Eyelid structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570779022) - 205548006 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570780020) - 205548006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570781024) - 205548006 -> 48477009 (363698007) View
363698007 \|Finding site (attribute)\|	48477009 \|Lip structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570782028) - 205548006 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4975003027) - 205548006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997672028) - 205548006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6110034020) - 205548006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10518455026) - 205548006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10608787022) - 205548006 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470247024) - 205548006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3378608022) - 205548006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1721681028) - 205548006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2569163028) - 205548006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470248025) - 205548006 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2531160020) - 205548006 -> 238907001 (116680003) View
116680003 \|Is a (attribute)\|	238907001 \|Site-specific disorder of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2569162022) - 205548006 -> 1522000 (116676008) View
116676008 \|Associated morphology (attribute)\|	1522000 \|Plaque (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
402772005 View
402772005	Autosomal recessive ichthyosis (disorder)	Autosomal recessive ichthyosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
26590002 View
26590002	Congenital ectropion (disorder)	Congenital ectropion	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
204647002 View
204647002	Congenital ectropion of lip (disorder)	Congenital ectropion of lip	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363080007 View
363080007	Digestive system hereditary disorder (disorder)	Digestive system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (4fe5ed87-0b1a-5fa1-9616-614c164fa174) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q80.4	TRUE	ALWAYS Q80.4	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 (af2db62a-af36-5b8a-8f84-7683a60c4f32) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q80.8	TRUE	ALWAYS Q80.8	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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