773554009: syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie (aandoening)

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

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

\bevinding betreffende hoofdomtrek\microcefalie\congenitale microcefalie\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

\bevinding betreffende regio van hoofd (bevinding)\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

\aandoening van hoofd (aandoening)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\aandoening van hoofd (aandoening)\Congenital anomaly of head\congenitale microcefalie\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\aandoening van hoofd (aandoening)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

\algemene bevinding betreffende observatie van patiënt (bevinding)\bevinding betreffende lichaamsmeting (bevinding)\bevinding betreffende hoofdomtrek\microcefalie\congenitale microcefalie\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

\Disease\genetische aandoening\hereditaire aandoening\Developmental hereditary disorder\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\aandoening van hoofd (aandoening)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\aandoening van hoofd (aandoening)\Congenital anomaly of head\congenitale microcefalie\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\aandoening van hoofd (aandoening)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of head\congenitale microcefalie\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\ontwikkelingsstoornis\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\ontwikkelingsstoornis\Developmental hereditary disorder\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of head\congenitale microcefalie\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
\Disease\ontwikkelingsstoornis\Developmental delay\Global developmental delay\THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

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
3724064011	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3724065012	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3724066013	Beaulieu Boycott Innes syndrome	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
3724067016	THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3724068014	BBIS - Beaulieu Boycott Innes syndrome	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
6743351000146116	syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie	nl	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
6743361000146118	syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie (aandoening)	nl	volledig gespecificeerde naam (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
6743371000146112	syndroom van Beaulieu-Boycott-Innes	nl	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
6956301000146117	BBIS	nl	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
3724069018	A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13.	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
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Associated morphology	congenitale kleinheid	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	locatie van bevinding	Brain structure	false	geïnfereerde relatie	existentiële restrictie (metadata)	1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	Autosomal recessive hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	geïnfereerde relatie	existentiële restrictie (metadata)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	locatie van bevinding	structuur van aangezicht	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	Hereditary disorder of nervous system	false	geïnfereerde relatie	existentiële restrictie (metadata)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	Intellectual disability	true	geïnfereerde relatie	existentiële restrictie (metadata)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	microcefalie	false	geïnfereerde relatie	existentiële restrictie (metadata)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	Global developmental delay	true	geïnfereerde relatie	existentiële restrictie (metadata)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	congenitale afwijking van hersenen (aandoening)	false	geïnfereerde relatie	existentiële restrictie (metadata)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	Developmental hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Has interpretation	onder referentiebereik	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	interpreteert	hoofdomtrek bij geboorte	true	geïnfereerde relatie	existentiële restrictie (metadata)	3
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	locatie van bevinding	Head structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	congenitale microcefalie	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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