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Terminology chevron_right Concepts chevron_right 398958000

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Component

398958000

The component that hold information about this concept.

Fully Specified Name (FSN)

Chondrodysplasia punctata, x-linked dominant type (disorder)

Shortest Term

Happle 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

Chondrodysplasia punctata, x-linked dominant type (disorder)

SCTID: 398958000, Primitive, Active

398958000|Chondrodysplasia punctata, x-linked dominant type (disorder)|

en Chondrodystrophia calcificans congenita
en Conradi hünermann happle syndrome
en Happle syndrome
en X-linked chondrodysplasia punctata type 2
en Chondrodysplasia punctata, x-linked dominant type
en Chondrodysplasia punctata, x-linked dominant type (disorder)

Expression

398958000 |Chondrodysplasia punctata, x-linked dominant type (disorder)|
 <<< 278715001 |Chondrodysplasia punctata (stippled epiphyses) group (disorder)| + 
1162984000 |X-linked dominant hereditary disease (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
238036004 |Disorder of cholesterol synthesis (disorder)| + 
239001006 |Genodermatosis (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
50279003 |Metabolic bone disease (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)| = 39937001 |Skin 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
4594529014 - Chondrodystrophia calcificans congenita (en) View
4594529014	en	Synonym (core metadata concept)	Chondrodystrophia calcificans congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4594527011 - Conradi Hünermann Happle syndrome (en) View
4594527011	en	Synonym (core metadata concept)	Conradi Hünermann Happle syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4594530016 - Happle syndrome (en) View
4594530016	en	Synonym (core metadata concept)	Happle syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4594528018 - X-linked chondrodysplasia punctata type 2 (en) View
4594528018	en	Synonym (core metadata concept)	X-linked chondrodysplasia punctata type 2	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1778432019 - Chondrodysplasia punctata, X-linked dominant type (en) View
1778432019	en	Synonym (core metadata concept)	Chondrodysplasia punctata, X-linked dominant type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
1766878011 - Chondrodysplasia punctata, X-linked dominant type (disorder) (en) View
1766878011	en	Fully specified name (core metadata concept)	Chondrodysplasia punctata, X-linked dominant type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4982362029) - 398958000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906938028) - 398958000 -> 1162984000 (116680003) View
116680003 \|Is a (attribute)\|	1162984000 \|X-linked dominant hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906939020) - 398958000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906940022) - 398958000 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906947020) - 398958000 -> 238036004 (116680003) View
116680003 \|Is a (attribute)\|	238036004 \|Disorder of cholesterol synthesis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906948026) - 398958000 -> 239001006 (116680003) View
116680003 \|Is a (attribute)\|	239001006 \|Genodermatosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906949023) - 398958000 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906950023) - 398958000 -> 50279003 (116680003) View
116680003 \|Is a (attribute)\|	50279003 \|Metabolic bone disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906951022) - 398958000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906952026) - 398958000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13906953020) - 398958000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3391767023) - 398958000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225639025) - 398958000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3391766025) - 398958000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4991778029) - 398958000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023566029) - 398958000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523228021) - 398958000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523229029) - 398958000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2283099026) - 398958000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2283098023) - 398958000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2283100023) - 398958000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2244409023) - 398958000 -> 278715001 (116680003) View
116680003 \|Is a (attribute)\|	278715001 \|Chondrodysplasia punctata (stippled epiphyses) group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1162984000 View
1162984000	X-linked dominant hereditary disease (disorder)	X-linked dominant hereditary disease	900000000000074008 \|Necessary but not sufficient concept 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
50279003 View
50279003	Metabolic bone disease (disorder)	Metabolic bone disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
238036004 View
238036004	Disorder of cholesterol synthesis (disorder)	Disorder of cholesterol synthesis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
239001006 View
239001006	Genodermatosis (disorder)	Genodermatosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
278715001 View
278715001	Chondrodysplasia punctata (stippled epiphyses) group (disorder)	Chondrodysplasia punctata	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
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 (d9fc2861-79b1-5984-85dc-4d3e924034dd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.3	TRUE	ALWAYS Q77.3 \| 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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