dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 232373003

Production

add

Component

232373003

The component that hold information about this concept.

Fully Specified Name (FSN)

Choanal atresia with radial ray hypoplasia (disorder)

Shortest Term

Goldblatt viljoen 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

Choanal atresia with radial ray hypoplasia (disorder)

SCTID: 232373003, Primitive, Active

232373003|Choanal atresia with radial ray hypoplasia (disorder)|

vi Hẹp lỗ mũi sau kèm theo giảm sản xương quay
en Goldblatt viljoen syndrome
en Choanal atresia with radial ray hypoplasia
en Choanal atresia with radial ray hypoplasia (disorder)

Expression

232373003 |Choanal atresia with radial ray hypoplasia (disorder)|
 <<< 1145429003 |Congenital hypoplasia of bone of upper limb (disorder)| + 
72089000 |Congenital deformity of nose (disorder)| + 
232379004 |Disorder of external nose (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
204508009 |Choanal atresia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1303493008 |Atresia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 71717001 |Structure of choana (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 371195002 |Bone structure of upper limb (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 6081001 |Deformity (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 44032009 |External nose 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
563201000003115 - hẹp lỗ mũi sau kèm theo giảm sản xương quay (vi) View
563201000003115	vi	Synonym (core metadata concept)	hẹp lỗ mũi sau kèm theo giảm sản xương quay	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
3701197017 - Goldblatt Viljoen syndrome (en) View
3701197017	en	Synonym (core metadata concept)	Goldblatt Viljoen syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
348140012 - Choanal atresia with radial ray hypoplasia (en) View
348140012	en	Synonym (core metadata concept)	Choanal atresia with radial ray hypoplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
620429010 - Choanal atresia with radial ray hypoplasia (disorder) (en) View
620429010	en	Fully specified name (core metadata concept)	Choanal atresia with radial ray hypoplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9619199029) - 232373003 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9619198021) - 232373003 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9619201027) - 232373003 -> 770543003 (116680003) View
116680003 \|Is a (attribute)\|	770543003 \|Congenital hypoplasia of part of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9619209025) - 232373003 -> 298756009 (116680003) View
116680003 \|Is a (attribute)\|	298756009 \|Finding of bone of upper limb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16299245020) - 232373003 -> 1145429003 (116680003) View
116680003 \|Is a (attribute)\|	1145429003 \|Congenital hypoplasia of bone of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9620693023) - 232373003 -> 56457002 (116676008) View
116676008 \|Associated morphology (attribute)\|	56457002 \|Congenital atresia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15893253024) - 232373003 -> 1303493008 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303493008 \|Atresia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3560975029) - 232373003 -> 72089000 (116680003) View
116680003 \|Is a (attribute)\|	72089000 \|Congenital deformity of nose (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105886022) - 232373003 -> 398206004 (116680003) View
116680003 \|Is a (attribute)\|	398206004 \|Congenital deformity of face (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11105887029) - 232373003 -> 301189006 (116680003) View
116680003 \|Is a (attribute)\|	301189006 \|Finding of nasal deformity (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13068995021) - 232373003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5004764028) - 232373003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5006936026) - 232373003 -> 71717001 (363698007) View
363698007 \|Finding site (attribute)\|	71717001 \|Structure of choana (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5008796029) - 232373003 -> 56457002 (116676008) View
116676008 \|Associated morphology (attribute)\|	56457002 \|Congenital atresia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028085024) - 232373003 -> 385297003 (116676008) View
116676008 \|Associated morphology (attribute)\|	385297003 \|Congenital deformity (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6115590023) - 232373003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619196020) - 232373003 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619200026) - 232373003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619202023) - 232373003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619203029) - 232373003 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619205020) - 232373003 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619206021) - 232373003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9619207028) - 232373003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9620695027) - 232373003 -> 71717001 (363698007) View
363698007 \|Finding site (attribute)\|	71717001 \|Structure of choana (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9624602027) - 232373003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9624603021) - 232373003 -> 371195002 (363698007) View
363698007 \|Finding site (attribute)\|	371195002 \|Bone structure of upper limb (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105885021) - 232373003 -> 6081001 (116676008) View
116676008 \|Associated morphology (attribute)\|	6081001 \|Deformity (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (503246029) - 232373003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3321830028) - 232373003 -> 56457002 (116676008) View
116676008 \|Associated morphology (attribute)\|	56457002 \|Congenital atresia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3321831029) - 232373003 -> 71717001 (363698007) View
363698007 \|Finding site (attribute)\|	71717001 \|Structure of choana (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3321832020) - 232373003 -> 385297003 (116676008) View
116676008 \|Associated morphology (attribute)\|	385297003 \|Congenital deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3321833026) - 232373003 -> 44032009 (363698007) View
363698007 \|Finding site (attribute)\|	44032009 \|External nose structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4983486022) - 232373003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5028086020) - 232373003 -> 44032009 (363698007) View
363698007 \|Finding site (attribute)\|	44032009 \|External nose structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (503244026) - 232373003 -> 44032009 (363698007) View
363698007 \|Finding site (attribute)\|	44032009 \|External nose structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (503247022) - 232373003 -> 71717001 (363698007) View
363698007 \|Finding site (attribute)\|	71717001 \|Structure of choana (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2253177029) - 232373003 -> 385297003 (116676008) View
116676008 \|Associated morphology (attribute)\|	385297003 \|Congenital deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2710998023) - 232373003 -> 56457002 (116676008) View
116676008 \|Associated morphology (attribute)\|	56457002 \|Congenital atresia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2705053020) - 232373003 -> 92931003 (116680003) View
116680003 \|Is a (attribute)\|	92931003 \|Congenital abnormal shape of nose (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3560976028) - 232373003 -> 232379004 (116680003) View
116680003 \|Is a (attribute)\|	232379004 \|Disorder of external nose (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2253179026) - 232373003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2253176022) - 232373003 -> 20139000 (363698007) View
363698007 \|Finding site (attribute)\|	20139000 \|Structure of respiratory system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2449267023) - 232373003 -> 385297003 (116676008) View
116676008 \|Associated morphology (attribute)\|	385297003 \|Congenital deformity (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2253178023) - 232373003 -> 385297003 (116676008) View
116676008 \|Associated morphology (attribute)\|	385297003 \|Congenital deformity (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (503245025) - 232373003 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (44160020) - 232373003 -> 204508009 (116680003) View
116680003 \|Is a (attribute)\|	204508009 \|Choanal atresia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1145429003 View
1145429003	Congenital hypoplasia of bone of upper limb (disorder)	Congenital hypoplasia of bone of upper limb	900000000000073002 \|Sufficiently defined by necessary conditions 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
204508009 View
204508009	Choanal atresia (disorder)	Teo lỗ mũi sau	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
232379004 View
232379004	Disorder of external nose (disorder)	Disorder of external nose	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
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
72089000 View
72089000	Congenital deformity of nose (disorder)	Congenital nasal deformity	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 (2f82bdd7-c6b4-5383-99ad-30a012ecf493) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q30.0	TRUE	ALWAYS Q30.0 \| 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)\|
ExtendedMap object (f809b10b-faa1-5f8d-b9cf-420790a6355d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.5	TRUE	ALWAYS Q87.5 \| 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 232373003

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches