dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 1187113001

Production

add

Component

1187113001

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis-like plus disease (disorder)

Shortest Term

Mucopolysaccharidosis-like plus disease

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

Mucopolysaccharidosis-like plus disease (disorder)

SCTID: 1187113001, Primitive, Active

1187113001|Mucopolysaccharidosis-like plus disease (disorder)|

en Mucopolysaccharidosis-like plus disease
en Mucopolysaccharidosis-like plus disease (disorder)
en Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder
en Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder

Expression

1187113001 |Mucopolysaccharidosis-like plus disease (disorder)|
 <<< 13213009 |Congenital heart disease (disorder)| + 
224958001 |Global developmental delay (disorder)| + 
279081001 |Dysostosis multiplex group (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
414027002 |Disorder of hematopoietic structure (disorder)| + 
50043002 |Disorder of respiratory system (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 80891009 |Heart structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 20139000 |Structure of respiratory system (body structure)| }
        { 363698007 |Finding site (attribute)| = 57171008 |Hematopoietic system structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4669914012 - Mucopolysaccharidosis-like plus disease (en) View
4669914012	en	Synonym (core metadata concept)	Mucopolysaccharidosis-like plus disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4669915013 - Mucopolysaccharidosis-like plus disease (disorder) (en) View
4669915013	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis-like plus disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4669911016 - Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder (en) View
4669911016	en	Synonym (core metadata concept)	Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4669910015 - Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder (en) View
4669910015	en	Synonym (core metadata concept)	Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15681315022) - 1187113001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681316023) - 1187113001 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963194021) - 1187113001 -> 13213009 (116680003) View
116680003 \|Is a (attribute)\|	13213009 \|Congenital heart disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963195022) - 1187113001 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963196023) - 1187113001 -> 279081001 (116680003) View
116680003 \|Is a (attribute)\|	279081001 \|Dysostosis multiplex group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963197025) - 1187113001 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963198024) - 1187113001 -> 414027002 (116680003) View
116680003 \|Is a (attribute)\|	414027002 \|Disorder of hematopoietic structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963199027) - 1187113001 -> 50043002 (116680003) View
116680003 \|Is a (attribute)\|	50043002 \|Disorder of respiratory system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963200029) - 1187113001 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963201025) - 1187113001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963202021) - 1187113001 -> 20139000 (363698007) View
363698007 \|Finding site (attribute)\|	20139000 \|Structure of respiratory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963203027) - 1187113001 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963204022) - 1187113001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963205023) - 1187113001 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963206024) - 1187113001 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963207026) - 1187113001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963208020) - 1187113001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963209028) - 1187113001 -> 80891009 (363698007) View
363698007 \|Finding site (attribute)\|	80891009 \|Heart structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963210022) - 1187113001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963211021) - 1187113001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963212025) - 1187113001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963213024) - 1187113001 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963214029) - 1187113001 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14963215028) - 1187113001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	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
414027002 View
414027002	Disorder of hematopoietic structure (disorder)	Rối loạn cấu trúc tạo máu	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
13213009 View
13213009	Congenital heart disease (disorder)	Bệnh tim bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
50043002 View
50043002	Disorder of respiratory system (disorder)	Bệnh hệ hô hấp	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
224958001 View
224958001	Global developmental delay (disorder)	Global developmental delay	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
279081001 View
279081001	Dysostosis multiplex group (disorder)	Dysostosis multiplex group	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal 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 (7b1e96d4-29c4-5282-953a-4705f8d62531) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E76.2	TRUE	ALWAYS E76.2 \| 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)\|

Terminology chevron_right Concepts chevron_right 1187113001

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches