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Terminology chevron_right Concepts chevron_right 33979003

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Component

33979003

The component that hold information about this concept.

Fully Specified Name (FSN)

Nievergelt's syndrome (disorder)

Shortest Term

Nievergelt 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

Nievergelt's syndrome (disorder)

SCTID: 33979003, Primitive, Active

33979003|Nievergelt's syndrome (disorder)|

en Nievergelt syndrome
en Nievergelt's syndrome (disorder)
en Mesomelic dysplasia - nievergelt type
en Nievergelt-erb syndrome
en Nievergelt's syndrome

Expression

33979003 |Nievergelt's syndrome (disorder)|
 <<< 41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
205473008 |Mesomelic dysplasia (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
92910001 |Congenital abnormal shape of fibula (disorder)| + 
92954007 |Congenital abnormal shape of tibia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 48566001 |Bone structure of extremity (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 399984000 |Abnormal shape (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12611008 |Bone structure of tibia (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 164835000 |Limb length (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 399984000 |Abnormal shape (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 87342007 |Bone structure of fibula (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
2840192018 - Nievergelt syndrome (en) View
2840192018	en	Synonym (core metadata concept)	Nievergelt syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
765446011 - Nievergelt's syndrome (disorder) (en) View
765446011	en	Fully specified name (core metadata concept)	Nievergelt's syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
485700013 - Mesomelic dysplasia - Nievergelt type (en) View
485700013	en	Synonym (core metadata concept)	Mesomelic dysplasia - Nievergelt type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
56731017 - Nievergelt-Erb syndrome (en) View
56731017	en	Synonym (core metadata concept)	Nievergelt-Erb syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
56730016 - Nievergelt's syndrome (en) View
56730016	en	Synonym (core metadata concept)	Nievergelt's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (756807024) - 33979003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981201024) - 33979003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292923021) - 33979003 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11571598029) - 33979003 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13280411029) - 33979003 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15492803021) - 33979003 -> 164835000 (363714003) View
363714003 \|Interprets (attribute)\|	164835000 \|Limb length (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492804026) - 33979003 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15492805025) - 33979003 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493693022) - 33979003 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493694027) - 33979003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493695026) - 33979003 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493696025) - 33979003 -> 92910001 (116680003) View
116680003 \|Is a (attribute)\|	92910001 \|Congenital abnormal shape of fibula (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493697023) - 33979003 -> 92954007 (116680003) View
116680003 \|Is a (attribute)\|	92954007 \|Congenital abnormal shape of tibia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493698029) - 33979003 -> 12611008 (363698007) View
363698007 \|Finding site (attribute)\|	12611008 \|Bone structure of tibia (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493699021) - 33979003 -> 399984000 (116676008) View
116676008 \|Associated morphology (attribute)\|	399984000 \|Abnormal shape (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493700022) - 33979003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493701021) - 33979003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493702025) - 33979003 -> 87342007 (363698007) View
363698007 \|Finding site (attribute)\|	87342007 \|Bone structure of fibula (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493703024) - 33979003 -> 399984000 (116676008) View
116676008 \|Associated morphology (attribute)\|	399984000 \|Abnormal shape (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493704029) - 33979003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (756806026) - 33979003 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3402222027) - 33979003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4990745028) - 33979003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023513027) - 33979003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515659028) - 33979003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515660022) - 33979003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (756808025) - 33979003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3405348029) - 33979003 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1764017024) - 33979003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2266168029) - 33979003 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (756809022) - 33979003 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (203233025) - 33979003 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (203234020) - 33979003 -> 205473008 (116680003) View
116680003 \|Is a (attribute)\|	205473008 \|Mesomelic dysplasia (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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
92910001 View
92910001	Congenital abnormal shape of fibula (disorder)	Congenital misshapen fibula	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
92954007 View
92954007	Congenital abnormal shape of tibia (disorder)	Congenital misshapen tibia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205473008 View
205473008	Mesomelic dysplasia (disorder)	Mesomelic 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

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 (015f9792-e6be-5e18-a06d-cfe305f3e834) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q79.8	TRUE	ALWAYS Q79.8	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 (54fc421a-5064-5ccf-870e-e596f263e613) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.8	TRUE	ALWAYS Q78.8 \| 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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