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Terminology chevron_right Concepts chevron_right 724281002

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Component

724281002

The component that hold information about this concept.

Fully Specified Name (FSN)

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)

Shortest Term

Bosma henkin christiansen 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

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)

SCTID: 724281002, Primitive, Active

724281002|Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)|

en Bosma arhinia microphthalmia syndrome
en Bosma henkin christiansen syndrome
en Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome
en Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)

Expression

724281002 |Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)|
 <<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
86527000 |Hypoplasia of eye (disorder)| + 
93278002 |Congenital hypoplasia of nose (disorder)| + 
722944006 |Congenital hypogonadotropic hypogonadism (disorder)| + 
782964007 |Genetic disease (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 1290040004 |Entire eye proper (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 304041004 |Gonadal endocrine structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 52618001 |Structure of pars distalis of pituitary (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)| = 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
5464938011 - Bosma arhinia microphthalmia syndrome (en) View
5464938011	en	Synonym (core metadata concept)	Bosma arhinia microphthalmia syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3433561016 - Bosma Henkin Christiansen syndrome (en) View
3433561016	en	Synonym (core metadata concept)	Bosma Henkin Christiansen syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3433560015 - Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (en) View
3433560015	en	Synonym (core metadata concept)	Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3433559013 - Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) (en) View
3433559013	en	Fully specified name (core metadata concept)	Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16377511025) - 724281002 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538060029) - 724281002 -> 244486005 (363698007) View
363698007 \|Finding site (attribute)\|	244486005 \|Entire eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15743001024) - 724281002 -> 1290040004 (363698007) View
363698007 \|Finding site (attribute)\|	1290040004 \|Entire eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874620021) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6880542029) - 724281002 -> 244486005 (363698007) View
363698007 \|Finding site (attribute)\|	244486005 \|Entire eye (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6891147020) - 724281002 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517279029) - 724281002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874619026) - 724281002 -> 38146002 (116676008) View
116676008 \|Associated morphology (attribute)\|	38146002 \|Congenital hypoplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874621020) - 724281002 -> 44032009 (363698007) View
363698007 \|Finding site (attribute)\|	44032009 \|External nose structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874623023) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874624028) - 724281002 -> 244486005 (363698007) View
363698007 \|Finding site (attribute)\|	244486005 \|Entire eye (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874625027) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874627024) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874630028) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6874631029) - 724281002 -> 244486005 (363698007) View
363698007 \|Finding site (attribute)\|	244486005 \|Entire eye (body structure)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6876152024) - 724281002 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6876155021) - 724281002 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6876156022) - 724281002 -> 38146002 (116676008) View
116676008 \|Associated morphology (attribute)\|	38146002 \|Congenital hypoplasia (morphologic abnormality)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6879016024) - 724281002 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517274023) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517276020) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517277027) - 724281002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517278021) - 724281002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517281027) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517282023) - 724281002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517283029) - 724281002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517285020) - 724281002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517287028) - 724281002 -> 44032009 (363698007) View
363698007 \|Finding site (attribute)\|	44032009 \|External nose structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545447029) - 724281002 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545449026) - 724281002 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11157552029) - 724281002 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11157553023) - 724281002 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874615021) - 724281002 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874616022) - 724281002 -> 86527000 (116680003) View
116680003 \|Is a (attribute)\|	86527000 \|Hypoplasia of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874617029) - 724281002 -> 93278002 (116680003) View
116680003 \|Is a (attribute)\|	93278002 \|Congenital hypoplasia of nose (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6874618023) - 724281002 -> 722944006 (116680003) View
116680003 \|Is a (attribute)\|	722944006 \|Congenital hypogonadotropic hypogonadism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722944006 View
722944006	Congenital hypogonadotropic hypogonadism (disorder)	Congenital hypogonadotropic hypogonadism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86527000 View
86527000	Hypoplasia of eye (disorder)	Rudimentary eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
93278002 View
93278002	Congenital hypoplasia of nose (disorder)	Congenital small nose	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 (182e8ef2-3b33-5734-9c78-2cfec92cb158) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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 (ba166bfd-c4f4-5b52-bf97-f3225f960fcd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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)\|

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