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Terminology chevron_right Concepts chevron_right 362991006

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Component

362991006

The component that hold information about this concept.

Fully Specified Name (FSN)

Auditory system hereditary disorder (disorder)

Shortest Term

Auditory system hereditary disorder

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Auditory system hereditary disorder (disorder)

SCTID: 362991006, Defined, Active

362991006|Auditory system hereditary disorder (disorder)|

en Auditory system hereditary disorder
en Auditory system hereditary disorder (disorder)

Expression

362991006 |Auditory system hereditary disorder (disorder)|
 === 362966006 |Disorder of auditory system (disorder)| + 
363137000 |Hereditary disorder by system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
482126018 - Auditory system hereditary disorder (en) View
482126018	en	Synonym (core metadata concept)	Auditory system hereditary disorder	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
754765014 - Auditory system hereditary disorder (disorder) (en) View
754765014	en	Fully specified name (core metadata concept)	Auditory system hereditary disorder (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (933171020) - 362991006 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (313469027) - 362991006 -> 362966006 (116680003) View
116680003 \|Is a (attribute)\|	362966006 \|Disorder of auditory system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (313470026) - 362991006 -> 363137000 (116680003) View
116680003 \|Is a (attribute)\|	363137000 \|Hereditary disorder by system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
362966006 View
362966006	Disorder of auditory system (disorder)	Disorder of auditory system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363137000 View
363137000	Hereditary disorder by system (disorder)	Hereditary disorder by system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (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
1260203008 View
1260203008	Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)	Even-plus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1236804009 View
1236804009	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)	Cerebellar ataxia with bilateral vestibulopathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1217379007 View
1217379007	Nk6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Spax8 - spastic ataxia 8	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208480004 View
1208480004	Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder)	Epibulbar lipodermoid, preauricular appendage, polythelia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
232306005 View
232306005	Inherited cochlear degeneration (disorder)	Inherited cochlear degeneration	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
783774006 View
783774006	External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Rasmussen johnsen thomsen syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773750003 View
773750003	Flat face, microstomia, ear anomaly syndrome (disorder)	Simosa craniofacial syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774155009 View
774155009	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)	Sams syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763130006 View
763130006	Cleft palate, large ears, small head syndrome (disorder)	Say barber hobbs syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763815000 View
763815000	Oculoauricular syndrome schorderet type (disorder)	Oculoauricular syndrome schorderet type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723442008 View
723442008	Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	Stoelinga de koomen davis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724139004 View
724139004	Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder)	Balikova vermeesch syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725096002 View
725096002	Cryptomicrotia brachydactyly syndrome (disorder)	Tonoki ohura niikawa syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726672000 View
726672000	Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	Pfeiffer palm teller syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726709001 View
726709001	Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Primrose syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719468005 View
719468005	Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Cleft palate with stapes fixation and oligodontia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720748007 View
720748007	Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Cooper jabs syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721836009 View
721836009	Hypertelorism with microtia and facial clefting syndrome (disorder)	Bixler christian gorlin syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721888002 View
721888002	Scalp, ear, nipple syndrome (disorder)	Finlay marks syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722006004 View
722006004	Isotretinoin embryopathy-like syndrome (disorder)	Kawashima syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715415005 View
715415005	Richards-rundle syndrome (disorder)	Richards-rundle syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715529009 View
715529009	Progressive deafness with stapes fixation (disorder)	Thies reis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716110002 View
716110002	Upper limb defect with eye and ear abnormalities syndrome (disorder)	Upper limb defect with eye and ear abnormalities syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702423009 View
702423009	Deafness-dystonia-optic neuronopathy syndrome (disorder)	Mohr-tranebjaerg syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702443003 View
702443003	Auriculo-condylar syndrome (disorder)	Dysgnathia complex	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
441944007 View
441944007	Oto-onycho-peroneal syndrome (disorder)	Oto-onycho-peroneal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42432003 View
42432003	Oto-palato-digital syndrome, type ii (disorder)	Otopalatodigital syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (7aed6a27-dd2c-5207-b49d-0e851c0accba) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H91.9	TRUE	ALWAYS H91.9	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 362991006

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