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Terminology chevron_right Concepts chevron_right 720851007

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Component

720851007

The component that hold information about this concept.

Fully Specified Name (FSN)

Chondrodysplasia with disorder of sex development syndrome (disorder)

Shortest Term

Nivelon nivelon mabille 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 with disorder of sex development syndrome (disorder)

SCTID: 720851007, Primitive, Active

720851007|Chondrodysplasia with disorder of sex development syndrome (disorder)|

en Chondrodysplasia pseudohermaphroditism syndrome
en Chondrodysplasia with disorder of sex development syndrome
en Chondrodysplasia with disorder of sex development syndrome (disorder)
en Nivelon nivelon mabille syndrome

Expression

720851007 |Chondrodysplasia with disorder of sex development syndrome (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
95218005 |Pure gonadal dysgenesis 46,xy (disorder)| + 
205465004 |Chondrodysplasia (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363290007 |Reproductive system hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (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)| = 43174007 |Gonadal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3322283016 - Chondrodysplasia pseudohermaphroditism syndrome (en) View
3322283016	en	Synonym (core metadata concept)	Chondrodysplasia pseudohermaphroditism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3322282014 - Chondrodysplasia with disorder of sex development syndrome (en) View
3322282014	en	Synonym (core metadata concept)	Chondrodysplasia with disorder of sex development syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3322281019 - Chondrodysplasia with disorder of sex development syndrome (disorder) (en) View
3322281019	en	Fully specified name (core metadata concept)	Chondrodysplasia with disorder of sex development syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3322284010 - Nivelon Nivelon Mabille syndrome (en) View
3322284010	en	Synonym (core metadata concept)	Nivelon Nivelon Mabille syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069271023) - 720851007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280513029) - 720851007 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538995028) - 720851007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225197027) - 720851007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687781027) - 720851007 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687784024) - 720851007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687785020) - 720851007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687786021) - 720851007 -> 43174007 (363698007) View
363698007 \|Finding site (attribute)\|	43174007 \|Gonadal structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687787028) - 720851007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687788022) - 720851007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687789025) - 720851007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525272022) - 720851007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525273028) - 720851007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525277027) - 720851007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525279029) - 720851007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538994029) - 720851007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538996027) - 720851007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538997020) - 720851007 -> 43174007 (363698007) View
363698007 \|Finding site (attribute)\|	43174007 \|Gonadal structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687776020) - 720851007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687777027) - 720851007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687778021) - 720851007 -> 95218005 (116680003) View
116680003 \|Is a (attribute)\|	95218005 \|Pure gonadal dysgenesis 46,xy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687779029) - 720851007 -> 205465004 (116680003) View
116680003 \|Is a (attribute)\|	205465004 \|Chondrodysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687780026) - 720851007 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687782023) - 720851007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6687783029) - 720851007 -> 363290007 (116680003) View
116680003 \|Is a (attribute)\|	363290007 \|Reproductive system hereditary disorder (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
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
95218005 View
95218005	Pure gonadal dysgenesis 46,xy (disorder)	Swyer syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205465004 View
205465004	Chondrodysplasia (disorder)	Chondrodysplasia	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
363290007 View
363290007	Reproductive system hereditary disorder (disorder)	Reproductive system hereditary disorder	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 (9222e9a6-b6a5-5678-8bca-7eb7e5d60d2e) 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)\|

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