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Terminology chevron_right Concepts chevron_right 720980004

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Component

720980004

The component that hold information about this concept.

Fully Specified Name (FSN)

Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)

Shortest Term

Shokeir syndrome

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

Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)

SCTID: 720980004, Primitive, Active

720980004|Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)|

en Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome
en Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)
en Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome
en Shokeir syndrome

Expression

720980004 |Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
710903001 |Periodontitis co-occurrent with genetic disorder (disorder)| + 
2965006 |Congenital alopecia (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| + 
271668009 |Pyorrhea (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 41034006 |Suppurative inflammation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 8711009 |Periodontal tissues structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 386045008 |Hair 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
3331041011 - Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (en) View
3331041011	en	Synonym (core metadata concept)	Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3330983011 - Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) (en) View
3330983011	en	Fully specified name (core metadata concept)	Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3332246010 - Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome (en) View
3332246010	en	Synonym (core metadata concept)	Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3322761016 - Shokeir syndrome (en) View
3322761016	en	Synonym (core metadata concept)	Shokeir syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6688041028) - 720980004 -> 86166000 (116680003) View
116680003 \|Is a (attribute)\|	86166000 \|Alopecia universalis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524083028) - 720980004 -> 128332003 (116680003) View
116680003 \|Is a (attribute)\|	128332003 \|Congenital anomaly of digestive organ (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524084023) - 720980004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524085024) - 720980004 -> 95473006 (116680003) View
116680003 \|Is a (attribute)\|	95473006 \|Congenital anomaly of jaw (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524088021) - 720980004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11539497029) - 720980004 -> 282041002 (116680003) View
116680003 \|Is a (attribute)\|	282041002 \|Congenital abnormality of internal part of mouth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091247024) - 720980004 -> 409774005 (116676008) View
116676008 \|Associated morphology (attribute)\|	409774005 \|Inflammatory morphology (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13723025024) - 720980004 -> 737265006 (116680003) View
116680003 \|Is a (attribute)\|	737265006 \|Developmental anomaly of periodontal tissue (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15179625024) - 720980004 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15179626020) - 720980004 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15179627027) - 720980004 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15179628021) - 720980004 -> 263680009 (370135005) View
370135005 \|Pathological process (attribute)\|	263680009 \|Autoimmune process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16417871027) - 720980004 -> 271668009 (116680003) View
116680003 \|Is a (attribute)\|	271668009 \|Pyorrhea (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16417872023) - 720980004 -> 42357009 (116680003) View
116680003 \|Is a (attribute)\|	42357009 \|Disorder of digestive system specific to fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16417873029) - 720980004 -> 41034006 (116676008) View
116676008 \|Associated morphology (attribute)\|	41034006 \|Suppurative inflammation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524079028) - 720980004 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069282026) - 720980004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13183789023) - 720980004 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524089029) - 720980004 -> 23583003 (116676008) View
116676008 \|Associated morphology (attribute)\|	23583003 \|Inflammation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688044020) - 720980004 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524082022) - 720980004 -> 128334002 (116680003) View
116680003 \|Is a (attribute)\|	128334002 \|Congenital anomaly of mouth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688046022) - 720980004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688049026) - 720980004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688801020) - 720980004 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688802029) - 720980004 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688803023) - 720980004 -> 23583003 (116676008) View
116676008 \|Associated morphology (attribute)\|	23583003 \|Inflammation (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688804028) - 720980004 -> 8711009 (363698007) View
363698007 \|Finding site (attribute)\|	8711009 \|Periodontal tissues structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524080025) - 720980004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524081026) - 720980004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524086020) - 720980004 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524087027) - 720980004 -> 8711009 (363698007) View
363698007 \|Finding site (attribute)\|	8711009 \|Periodontal tissues structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688039029) - 720980004 -> 2965006 (116680003) View
116680003 \|Is a (attribute)\|	2965006 \|Congenital alopecia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688040027) - 720980004 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688042024) - 720980004 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688043025) - 720980004 -> 710903001 (116680003) View
116680003 \|Is a (attribute)\|	710903001 \|Periodontitis co-occurrent with genetic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

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
42357009 View
42357009	Disorder of digestive system specific to fetus or newborn (disorder)	Perinatal digestive system disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
710903001 View
710903001	Periodontitis co-occurrent with genetic disorder (disorder)	Periodontitis associated with genetic disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
2965006 View
2965006	Congenital alopecia (disorder)	Atrichia congenita	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
271668009 View
271668009	Pyorrhea (disorder)	Pyorrhea	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	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 (0d3ed282-98fd-5ff6-a23f-a87e5e8fd016) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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