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Terminology chevron_right Concepts chevron_right 22932004

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Component

22932004

The component that hold information about this concept.

Fully Specified Name (FSN)

Chondrodysplasia punctata, conradi-hünermann type (disorder)

Shortest Term

Conradi's 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, conradi-hünermann type (disorder)

SCTID: 22932004, Primitive, Inactive

22932004|Chondrodysplasia punctata, conradi-hünermann type (disorder)|

en Chondrodysplasia calcificans congenita
en Chondrodysplasia punctata, conradi-hunermann type
en Chondrodysplasia punctata, conradi-hünermann type
en Chondrodysplasia punctata, conradi-hünermann type (disorder)
en Chondrodysplasia punctata, x-linked dominant type
en Conradi-hunermann syndrome
en Conradi-hünermann syndrome
en Conradi's syndrome

Expression

22932004 |Chondrodysplasia punctata, conradi-hünermann type (disorder)|
 <<< 

Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
481475012 - Chondrodysplasia calcificans congenita (en) View
481475012	en	Synonym (core metadata concept)	Chondrodysplasia calcificans congenita	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
38520012 - Chondrodysplasia punctata, Conradi-Hunermann type (en) View
38520012	en	Synonym (core metadata concept)	Chondrodysplasia punctata, Conradi-Hunermann type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
38517016 - Chondrodysplasia punctata, Conradi-Hünermann type (en) View
38517016	en	Synonym (core metadata concept)	Chondrodysplasia punctata, Conradi-Hünermann type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
752396018 - Chondrodysplasia punctata, Conradi-Hünermann type (disorder) (en) View
752396018	en	Fully specified name (core metadata concept)	Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
481474011 - Chondrodysplasia punctata, X-linked dominant type (en) View
481474011	en	Synonym (core metadata concept)	Chondrodysplasia punctata, X-linked dominant type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
38521011 - Conradi-Hunermann syndrome (en) View
38521011	en	Synonym (core metadata concept)	Conradi-Hunermann syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
38518014 - Conradi-Hünermann syndrome (en) View
38518014	en	Synonym (core metadata concept)	Conradi-Hünermann syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
38519018 - Conradi's syndrome (en) View
38519018	en	Synonym (core metadata concept)	Conradi's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (185407021) - 22932004 -> 278715001 (116680003) View
116680003 \|Is a (attribute)\|	278715001 \|Chondrodysplasia punctata (stippled epiphyses) group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (185408027) - 22932004 -> 239057002 (116680003) View
116680003 \|Is a (attribute)\|	239057002 \|Cutaneous syndrome with ichthyosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (185409024) - 22932004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729405021) - 22932004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729406022) - 22932004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729407029) - 22932004 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1760400029) - 22932004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729409026) - 22932004 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729408023) - 22932004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

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

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (185407021) - 22932004 -> 278715001 (116680003) View
116680003 \|Is a (attribute)\|	278715001 \|Chondrodysplasia punctata (stippled epiphyses) group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (185408027) - 22932004 -> 239057002 (116680003) View
116680003 \|Is a (attribute)\|	239057002 \|Cutaneous syndrome with ichthyosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (185409024) - 22932004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729405021) - 22932004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729406022) - 22932004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729407029) - 22932004 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1760400029) - 22932004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729409026) - 22932004 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729408023) - 22932004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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