773583007: syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke beperking (aandoening)

SNOMED CT Concept\klinische bevinding (bevinding)\...

\bevinding betreffende extremiteit (bevinding)\aandoening van extremiteit (aandoening)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\aandoening van extremiteit (aandoening)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\aandoening van extremiteit (aandoening)\aandoening van onderste extremiteit (aandoening)\Disorder of free lower limb (disorder)\aandoening van voet (aandoening)\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\aandoening van extremiteit (aandoening)\aandoening van onderste extremiteit (aandoening)\Disorder of free lower limb (disorder)\aandoening van voet (aandoening)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\aandoening van extremiteit (aandoening)\aandoening van onderste extremiteit (aandoening)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\aandoening van extremiteit (aandoening)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\aandoening van extremiteit (aandoening)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\bevinding betreffende onderste extremiteit (bevinding)\Finding of ankle or foot (finding)\bevinding betreffende regio van voet (bevinding)\Toe finding (finding)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\bevinding betreffende onderste extremiteit (bevinding)\Finding of ankle or foot (finding)\bevinding betreffende regio van voet (bevinding)\aandoening van voet (aandoening)\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\bevinding betreffende onderste extremiteit (bevinding)\Finding of ankle or foot (finding)\bevinding betreffende regio van voet (bevinding)\aandoening van voet (aandoening)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\bevinding betreffende onderste extremiteit (bevinding)\aandoening van onderste extremiteit (aandoening)\Disorder of free lower limb (disorder)\aandoening van voet (aandoening)\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\bevinding betreffende onderste extremiteit (bevinding)\aandoening van onderste extremiteit (aandoening)\Disorder of free lower limb (disorder)\aandoening van voet (aandoening)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende extremiteit (bevinding)\bevinding betreffende onderste extremiteit (bevinding)\aandoening van onderste extremiteit (aandoening)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\...

\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Finding of eye region\Globe finding\Retina finding (finding)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

\aandoening van hoofd (aandoening)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...

\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

\Ear and auditory finding\aandoening van auditief systeem\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Retina finding (finding)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Eye / vision finding\aandoening van visueel systeem (aandoening)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Eye / vision finding\aandoening van visueel systeem (aandoening)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Eye / vision finding\aandoening van visueel systeem (aandoening)\Hereditary disorder of the visual system\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

\bevinding betreffende functioneren (bevinding)\Finding of sensory function\bevinding betreffende gehoor\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende functioneren (bevinding)\Finding of sensory function\bevinding betreffende gehoor\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\bevinding betreffende functioneren (bevinding)\communicatiestoornis (aandoening)\spraak-taalstoornis (aandoening)\Aphonia (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

\Speech finding\bevinding betreffende spraak en taal (bevinding)\bevinding betreffende communicatie, spraak en taal (bevinding)\communicatiestoornis (aandoening)\spraak-taalstoornis (aandoening)\Aphonia (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of the visual system\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Developmental hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\degeneratieve aandoening\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of the visual system\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van visueel systeem (aandoening)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van visueel systeem (aandoening)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ziekte van structuur van tractus\aandoening van visueel systeem (aandoening)\Hereditary disorder of the visual system\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\communicatiestoornis (aandoening)\spraak-taalstoornis (aandoening)\Aphonia (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van extremiteit (aandoening)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van extremiteit (aandoening)\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van extremiteit (aandoening)\aandoening van onderste extremiteit (aandoening)\Disorder of free lower limb (disorder)\aandoening van voet (aandoening)\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van extremiteit (aandoening)\aandoening van onderste extremiteit (aandoening)\Disorder of free lower limb (disorder)\aandoening van voet (aandoening)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van extremiteit (aandoening)\aandoening van onderste extremiteit (aandoening)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van extremiteit (aandoening)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van extremiteit (aandoening)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van hoofd (aandoening)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\aandoening van hoofd (aandoening)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\aandoening van retina\Degeneration of retina\retinadystrofie\hereditaire retinadystrofie\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\Congenital disease\congenitale malformatie (aandoening)\congenitale afwijking van onderste extremiteit en bekkengordel (aandoening)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\Congenital disease\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ontwikkelingsstoornis\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ontwikkelingsstoornis\Developmental hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\congenitale afwijking van onderste extremiteit en bekkengordel (aandoening)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: module van internationale editie (metadata)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3724288019	Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3724289010	Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3724290018	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3724291019	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
6803091000146116	syndroom van afonie, doofheid, retinadystrofie, bifide hallux en mentale retardatie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
7495251000146114	syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke beperking (aandoening)	nl	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
7566651000146113	syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke handicap	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
7566661000146111	syndroom van afonie, doofheid, retinadystrofie, bifide hallux en verstandelijke beperking	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
3724034015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	en	tekstdefinitie (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	congenitale gehoorstoornis (aandoening)	false	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	locatie van bevinding	Hallux structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Hearing loss (disorder)	false	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Associated morphology	bilobaire structuur	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Aphonia (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	locatie van bevinding	structuur van auditief systeem (lichaamsstructuur)	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	hereditaire retinadystrofie	true	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	locatie van bevinding	Retinal structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Associated morphology	dystrofie	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Auditory system hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Perodactylia of great toe	true	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	interpreteert	Hearing, function (observable entity)	true	geïnfereerde relatie	existentiële restrictie (metadata)	5
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Has interpretation	Abnormal	true	geïnfereerde relatie	existentiële restrictie (metadata)	4
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	bevinding betreffende communicatie, spraak en taal (bevinding)	false	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	interpreteert	vermogen tot uitvoeren van functies gerelateerd aan communicatie (waarneembare entiteit)	true	geïnfereerde relatie	existentiële restrictie (metadata)	4
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	Congenital hearing loss (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start