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Terminology chevron_right Concepts chevron_right 1217372003

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Component

1217372003

The component that hold information about this concept.

Fully Specified Name (FSN)

Severe myopia, generalized joint laxity, short stature syndrome (disorder)

Shortest Term

Severe myopia, generalised joint laxity, short stature 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

Severe myopia, generalized joint laxity, short stature syndrome (disorder)

SCTID: 1217372003, Primitive, Active

1217372003|Severe myopia, generalized joint laxity, short stature syndrome (disorder)|

en Severe myopia, generalised joint laxity, short stature syndrome
en Severe myopia, generalized joint laxity, short stature syndrome
en Severe myopia, generalized joint laxity, short stature syndrome (disorder)

Expression

1217372003 |Severe myopia, generalized joint laxity, short stature syndrome (disorder)|
 <<< 237836003 |Short stature disorder (disorder)| + 
254098000 |Multiple dislocations with dysplasia (disorder)| + 
312225001 |Musculoskeletal and connective tissue disorder (disorder)| + 
34187009 |Severe myopia (disorder)| + 
363039000 |Congenital connective tissue disorder (disorder)| + 
363045008 |Connective tissue hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
385424001 |Injury of connective tissue (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
1363478003 |Body height below reference range (finding)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113192009 |Skeletal system 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)| = 21793004 |Connective tissue structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 87642003 |Dislocation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 773190007 |Joint structure of multiple body sites (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 1153637007 |Body height (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 49549006 |Structure of visual system (body structure)| }
        { 42752001 |Due to (attribute)| = 789750003 |Spontaneous event (event)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5036040010 - Severe myopia, generalised joint laxity, short stature syndrome (en) View
5036040010	en	Synonym (core metadata concept)	Severe myopia, generalised joint laxity, short stature syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5036039013 - Severe myopia, generalized joint laxity, short stature syndrome (en) View
5036039013	en	Synonym (core metadata concept)	Severe myopia, generalized joint laxity, short stature syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5036041014 - Severe myopia, generalized joint laxity, short stature syndrome (disorder) (en) View
5036041014	en	Fully specified name (core metadata concept)	Severe myopia, generalized joint laxity, short stature syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16331433025) - 1217372003 -> 1363478003 (116680003) View
116680003 \|Is a (attribute)\|	1363478003 \|Body height below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148928021) - 1217372003 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148929029) - 1217372003 -> 254098000 (116680003) View
116680003 \|Is a (attribute)\|	254098000 \|Multiple dislocations with dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148930023) - 1217372003 -> 312225001 (116680003) View
116680003 \|Is a (attribute)\|	312225001 \|Musculoskeletal and connective tissue disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148931022) - 1217372003 -> 34187009 (116680003) View
116680003 \|Is a (attribute)\|	34187009 \|Severe myopia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148932026) - 1217372003 -> 363039000 (116680003) View
116680003 \|Is a (attribute)\|	363039000 \|Congenital connective tissue disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148933020) - 1217372003 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148934025) - 1217372003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148935029) - 1217372003 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148936028) - 1217372003 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148937021) - 1217372003 -> 385424001 (116680003) View
116680003 \|Is a (attribute)\|	385424001 \|Injury of connective tissue (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148938027) - 1217372003 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148939024) - 1217372003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148940021) - 1217372003 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148941020) - 1217372003 -> 789750003 (42752001) View
42752001 \|Due to (attribute)\|	789750003 \|Spontaneous event (event)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148942029) - 1217372003 -> 49549006 (363698007) View
363698007 \|Finding site (attribute)\|	49549006 \|Structure of visual system (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148943023) - 1217372003 -> 1153637007 (363714003) View
363714003 \|Interprets (attribute)\|	1153637007 \|Body height (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148944028) - 1217372003 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148945027) - 1217372003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148946026) - 1217372003 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148947024) - 1217372003 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148948025) - 1217372003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148949022) - 1217372003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148950022) - 1217372003 -> 21793004 (363698007) View
363698007 \|Finding site (attribute)\|	21793004 \|Connective tissue structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148951021) - 1217372003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148952025) - 1217372003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148953024) - 1217372003 -> 773190007 (363698007) View
363698007 \|Finding site (attribute)\|	773190007 \|Joint structure of multiple body sites (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15148954029) - 1217372003 -> 87642003 (116676008) View
116676008 \|Associated morphology (attribute)\|	87642003 \|Dislocation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1363478003 View
1363478003	Body height below reference range (finding)	Body height below reference range	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254098000 View
254098000	Multiple dislocations with dysplasia (disorder)	Multiple dislocations with dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
34187009 View
34187009	Severe myopia (disorder)	High myopia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
312225001 View
312225001	Musculoskeletal and connective tissue disorder (disorder)	Musculoskeletal and connective tissue disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363039000 View
363039000	Congenital connective tissue disorder (disorder)	Congenital connective tissue disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
385424001 View
385424001	Injury of connective tissue (disorder)	Injury of connective tissue	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363045008 View
363045008	Connective tissue hereditary disorder (disorder)	Connective tissue hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	900000000000074008 \|Necessary but not sufficient concept 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
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 (30f5306b-4d9e-506e-80c8-eb47cafcd470) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1 \| 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)\|
ExtendedMap object (c5d948b0-fffd-5255-9e3a-43b3513c1b8d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.5	TRUE	ALWAYS Q87.5 \| 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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