773610007: Chudley McCullough syndrome (disorder)

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

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom

\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\bevinding betreffende regio van hoofd (bevinding)\Ear finding\Disorder of ear\Chudley-McCullough-syndroom
\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\aandoening van hoofd (aandoening)\Congenital anomaly of head\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\bevinding betreffende hoofd-halsregio (bevinding)\Head finding (finding)\aandoening van hoofd (aandoening)\Disorder of ear\Chudley-McCullough-syndroom
\bevinding betreffende hoofd-halsregio (bevinding)\bevinding betreffende keel, neus en oor (bevinding)\Ear finding\Disorder of ear\Chudley-McCullough-syndroom
\bevinding betreffende hoofd-halsregio (bevinding)\bevinding betreffende keel, neus en oor (bevinding)\Ear, nose and throat disorder\Disorder of ear\Chudley-McCullough-syndroom

\Ear and auditory finding\aandoening van auditief systeem\Auditory system hereditary disorder\Chudley-McCullough-syndroom
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Hearing loss associated with syndrome\Chudley-McCullough-syndroom
\Ear and auditory finding\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Sensorineural hearing loss\Chudley-McCullough-syndroom
\Ear and auditory finding\aandoening van auditief systeem\Disorder of ear\Chudley-McCullough-syndroom
\Ear and auditory finding\Ear finding\Disorder of ear\Chudley-McCullough-syndroom
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\Hearing loss (disorder)\Hearing loss associated with syndrome\Chudley-McCullough-syndroom
\Ear and auditory finding\bevinding betreffende gehoor\gehoorstoornis (aandoening)\Hearing loss (disorder)\Sensorineural hearing loss\Chudley-McCullough-syndroom

\bevinding betreffende functioneren (bevinding)\Finding of sensory function\...

\Disorder of sensory function (disorder)\Chudley-McCullough-syndroom

\bevinding betreffende gehoor\gehoorstoornis (aandoening)\...

\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom

\Hearing loss (disorder)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom
\Hearing loss (disorder)\Hearing loss associated with syndrome\Chudley-McCullough-syndroom
\Hearing loss (disorder)\Sensorineural hearing loss\Chudley-McCullough-syndroom

\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of nervous system\Chudley-McCullough-syndroom
\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Auditory system hereditary disorder\Chudley-McCullough-syndroom
\Disease\genetische aandoening\hereditaire aandoening\Developmental hereditary disorder\Chudley-McCullough-syndroom
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of nervous system\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Auditory system hereditary disorder\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\Auditory system hereditary disorder\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Hearing loss associated with syndrome\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\gehoorstoornis (aandoening)\Hearing loss (disorder)\Sensorineural hearing loss\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\aandoening van auditief systeem\Disorder of ear\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\congenitale neuropathie\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\Ear, nose and throat disorder\Disorder of ear\Chudley-McCullough-syndroom
\Disease\aandoening van hoofd (aandoening)\Congenital anomaly of head\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\aandoening van hoofd (aandoening)\Disorder of brain (disorder)\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\aandoening van hoofd (aandoening)\Disorder of ear\Chudley-McCullough-syndroom
\Disease\Congenital disease\congenitale neuropathie\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of head\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\Congenital disease\congenitale gehoorstoornis (aandoening)\Congenital hearing loss (disorder)\Chudley-McCullough-syndroom
\Disease\ontwikkelingsstoornis\Developmental hereditary disorder\Chudley-McCullough-syndroom
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of head\congenitale afwijking van hersenen (aandoening)\Dysgenesis of the cerebellum\Chudley-McCullough-syndroom

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
10662901000146117	Chudley-McCullough-syndroom	nl	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
10662911000146115	Chudley-McCullough-syndroom (aandoening)	nl	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
3724847014	Chudley McCullough syndrome (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3724848016	Chudley McCullough syndrome	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
6454521000146111	syndroom van Chudley-McCullough	nl	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
3724849012	A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13.	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
Chudley-McCullough-syndroom	Is a	Autosomal recessive hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	Is a	congenitale gehoorstoornis (aandoening)	false	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	Is a	Hearing loss associated with syndrome	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	Is a	Hereditary disorder of nervous system	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	locatie van bevinding	Ear structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
Chudley-McCullough-syndroom	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Chudley-McCullough-syndroom	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Chudley-McCullough-syndroom	Associated morphology	Morphologically abnormal structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Chudley-McCullough-syndroom	Is a	Auditory system hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	locatie van bevinding	Cerebellar structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
Chudley-McCullough-syndroom	Is a	Dysgenesis of the cerebellum	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	interpreteert	Hearing, function (observable entity)	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
Chudley-McCullough-syndroom	Is a	Sensorineural hearing loss	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	Is a	Disorder of ear	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	Is a	Developmental hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	Is a	Disorder of sensory function (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
Chudley-McCullough-syndroom	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

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