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Terminology chevron_right Concepts chevron_right 773406003

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Component

773406003

The component that hold information about this concept.

Fully Specified Name (FSN)

Mandibular hypoplasia, deafness, progeroid syndrome (disorder)

Shortest Term

Mandibular hypoplasia, deafness, progeroid 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

Mandibular hypoplasia, deafness, progeroid syndrome (disorder)

SCTID: 773406003, Primitive, Active

773406003|Mandibular hypoplasia, deafness, progeroid syndrome (disorder)|

en Mandibular hypoplasia, deafness, progeroid syndrome
en Mandibular hypoplasia, deafness, progeroid syndrome (disorder)
en Mandibular hypoplasia, hearing loss, progeroid syndrome
en Mdp (mandibular hypoplasia, deafness, progeroid) syndrome

Expression

773406003 |Mandibular hypoplasia, deafness, progeroid syndrome (disorder)|
 <<< 788953003 |Hereditary hearing loss (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
32958008 |Congenital micrognathism (disorder)| + 
50279003 |Metabolic bone disease (disorder)| + 
399959003 |Premature aging syndrome (disorder)| + 
700453005 |Congenital sensorineural hearing loss (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
111474003 |Disorder involving the integument of fetus or newborn (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 91609006 |Bone structure of mandible (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3723423018 - Mandibular hypoplasia, deafness, progeroid syndrome (en) View
3723423018	en	Synonym (core metadata concept)	Mandibular hypoplasia, deafness, progeroid syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3723422011 - Mandibular hypoplasia, deafness, progeroid syndrome (disorder) (en) View
3723422011	en	Fully specified name (core metadata concept)	Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3723421016 - Mandibular hypoplasia, hearing loss, progeroid syndrome (en) View
3723421016	en	Synonym (core metadata concept)	Mandibular hypoplasia, hearing loss, progeroid syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3723420015 - MDP (mandibular hypoplasia, deafness, progeroid) syndrome (en) View
3723420015	en	Synonym (core metadata concept)	MDP (mandibular hypoplasia, deafness, progeroid) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10599279026) - 773406003 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374388023) - 773406003 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15880897028) - 773406003 -> 111474003 (116680003) View
116680003 \|Is a (attribute)\|	111474003 \|Disorder involving the integument of fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12730387026) - 773406003 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730388020) - 773406003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730389028) - 773406003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730390021) - 773406003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069979026) - 773406003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599281029) - 773406003 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599266024) - 773406003 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599267026) - 773406003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599268020) - 773406003 -> 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 (10599269028) - 773406003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599270027) - 773406003 -> 32958008 (116680003) View
116680003 \|Is a (attribute)\|	32958008 \|Congenital micrognathism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599271028) - 773406003 -> 50279003 (116680003) View
116680003 \|Is a (attribute)\|	50279003 \|Metabolic bone disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599272024) - 773406003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599274020) - 773406003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599275021) - 773406003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599276022) - 773406003 -> 399959003 (116680003) View
116680003 \|Is a (attribute)\|	399959003 \|Premature aging syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599277029) - 773406003 -> 700453005 (116680003) View
116680003 \|Is a (attribute)\|	700453005 \|Congenital sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599278023) - 773406003 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599280028) - 773406003 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599282020) - 773406003 -> 91609006 (363698007) View
363698007 \|Finding site (attribute)\|	91609006 \|Bone structure of mandible (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10599283026) - 773406003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
111474003 View
111474003	Disorder involving the integument of fetus or newborn (disorder)	Perinatal dermatological disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
700453005 View
700453005	Congenital sensorineural hearing loss (disorder)	Congenital sensorineural deafness	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
32958008 View
32958008	Congenital micrognathism (disorder)	Small jaw	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
399959003 View
399959003	Premature aging syndrome (disorder)	Premature aging syndrome	900000000000074008 \|Necessary but not sufficient concept 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
50279003 View
50279003	Metabolic bone disease (disorder)	Metabolic bone disease	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
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 (e40657f8-8571-5fda-8b8b-994129d2d41f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E34.8	TRUE	ALWAYS E34.8 \| 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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