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Terminology chevron_right Concepts chevron_right 733050004

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Component

733050004

The component that hold information about this concept.

Fully Specified Name (FSN)

Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)

Shortest Term

Dysmorphism, short stature, deafness, pseudohermaphroditism 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

Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)

SCTID: 733050004, Primitive, Active

733050004|Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)|

en Dysmorphism, short stature, deafness, disorder of sex development syndrome
en Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)
en Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome

Expression

733050004 |Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)|
 <<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
75164001 |Pseudohermaphroditism (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
363290007 |Reproductive system hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face 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)| = 71934003 |Genital structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3498638013 - Dysmorphism, short stature, deafness, disorder of sex development syndrome (en) View
3498638013	en	Synonym (core metadata concept)	Dysmorphism, short stature, deafness, disorder of sex development syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498639017 - Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder) (en) View
3498639017	en	Fully specified name (core metadata concept)	Dysmorphism, short stature, deafness, disorder of sex development syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498637015 - Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome (en) View
3498637015	en	Synonym (core metadata concept)	Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6994155026) - 733050004 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374455026) - 733050004 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9127995020) - 733050004 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316814022) - 733050004 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095181029) - 733050004 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095182020) - 733050004 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096545026) - 733050004 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096546025) - 733050004 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092408022) - 733050004 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069544024) - 733050004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280545023) - 733050004 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994157023) - 733050004 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12092406021) - 733050004 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092407028) - 733050004 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994158029) - 733050004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994159021) - 733050004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994161028) - 733050004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994162024) - 733050004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6999796024) - 733050004 -> 71934003 (363698007) View
363698007 \|Finding site (attribute)\|	71934003 \|Genital structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6999797026) - 733050004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522199022) - 733050004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522200020) - 733050004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522201024) - 733050004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522202028) - 733050004 -> 71934003 (363698007) View
363698007 \|Finding site (attribute)\|	71934003 \|Genital structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522203022) - 733050004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522204027) - 733050004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522205026) - 733050004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522206025) - 733050004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994152028) - 733050004 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994149020) - 733050004 -> 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 (6994150020) - 733050004 -> 75164001 (116680003) View
116680003 \|Is a (attribute)\|	75164001 \|Pseudohermaphroditism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994151024) - 733050004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994153022) - 733050004 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994154027) - 733050004 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994156025) - 733050004 -> 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
788953003 View
788953003	Hereditary hearing loss (disorder)	Hereditary hearing loss	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	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
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
75164001 View
75164001	Pseudohermaphroditism (disorder)	Pseudohermaphroditism	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
232333009 View
232333009	Hearing loss associated with syndrome (disorder)	Syndromal deafness	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
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 (a2a27ee0-adf7-52e8-be3c-0e30ad82d646) 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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