dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 719205008

Production

add

Component

719205008

The component that hold information about this concept.

Fully Specified Name (FSN)

Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

Shortest Term

Spondylometaphyseal dysplasia with cone-rod dystrophy 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

Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

SCTID: 719205008, Primitive, Active

719205008|Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)|

en Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome
en Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)

Expression

719205008 |Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)|
 <<< 879976004 |Lesion of bone (disorder)| + 
784006008 |Spondylometaphyseal dysplasia (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| + 
128237006 |Chronic disease of musculoskeletal system (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
128283000 |Chronic nervous system disorder (disorder)| + 
41799005 |Hereditary retinal dystrophy (disorder)| + 
54767005 |Disorder of visual pathways (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113324008 |Structure of neuroepithelial layer of retina (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3315413016 - Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (en) View
3315413016	en	Synonym (core metadata concept)	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3315412014 - Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) (en) View
3315412014	en	Fully specified name (core metadata concept)	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16413224027) - 719205008 -> 879976004 (116680003) View
116680003 \|Is a (attribute)\|	879976004 \|Lesion of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619844020) - 719205008 -> 80328002 (116680003) View
116680003 \|Is a (attribute)\|	80328002 \|Progressive cone-rod dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13908826028) - 719205008 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13908827021) - 719205008 -> 128283000 (116680003) View
116680003 \|Is a (attribute)\|	128283000 \|Chronic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13908828027) - 719205008 -> 41799005 (116680003) View
116680003 \|Is a (attribute)\|	41799005 \|Hereditary retinal dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13908829024) - 719205008 -> 54767005 (116680003) View
116680003 \|Is a (attribute)\|	54767005 \|Disorder of visual pathways (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546786024) - 719205008 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12090954026) - 719205008 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090955025) - 719205008 -> 113324008 (363698007) View
363698007 \|Finding site (attribute)\|	113324008 \|Structure of neuroepithelial layer of retina (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090956029) - 719205008 -> 128237006 (116680003) View
116680003 \|Is a (attribute)\|	128237006 \|Chronic disease of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619843025) - 719205008 -> 28681006 (116680003) View
116680003 \|Is a (attribute)\|	28681006 \|Metaphyseal chondrodysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619847029) - 719205008 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10546785023) - 719205008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11227524023) - 719205008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11326766029) - 719205008 -> 784006008 (116680003) View
116680003 \|Is a (attribute)\|	784006008 \|Spondylometaphyseal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11326767022) - 719205008 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619846022) - 719205008 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619848023) - 719205008 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619849026) - 719205008 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619850026) - 719205008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619851027) - 719205008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6619852023) - 719205008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519265028) - 719205008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519268026) - 719205008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546782021) - 719205008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546783027) - 719205008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546784022) - 719205008 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6619845021) - 719205008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
879976004 View
879976004	Lesion of bone (disorder)	Lesion of bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
784006008 View
784006008	Spondylometaphyseal dysplasia (disorder)	Spondylometaphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54767005 View
54767005	Disorder of visual pathways (disorder)	Disorder of visual pathways	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8447006 View
8447006	Congenital anomaly of skeletal bone (disorder)	Congenital skeletal anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41799005 View
41799005	Hereditary retinal dystrophy (disorder)	Hereditary retinal dystrophy	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
128237006 View
128237006	Chronic disease of musculoskeletal system (disorder)	Chronic musculoskeletal disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128283000 View
128283000	Chronic nervous system disorder (disorder)	Chronic nervous system disease	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 (15f29855-7164-5983-8076-79c7242167d3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H35.5	TRUE	ALWAYS H35.5	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 (76826c24-189b-5e45-970e-48c7f21082a9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.8	TRUE	ALWAYS Q77.8 \| 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)\|

Terminology chevron_right Concepts chevron_right 719205008

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches