774070008: syndroom van fibuline-1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie (aandoening)

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

\bevinding betreffende extremiteit (bevinding)\aandoening van extremiteit (aandoening)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome

\Disease\genetische aandoening\hereditaire aandoening\Hereditary disorder by system\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\genetische aandoening\hereditaire aandoening\Developmental hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\genetische aandoening\hereditaire aandoening\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ziekte van structuur van tractus\Hereditary disorder by system\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\congenitale neuropathie\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ziekte van structuur van tractus\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\aandoening van extremiteit (aandoening)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\aandoening van extremiteit (aandoening)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Congenital disease\congenitale neuropathie\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\Congenital disease\congenitale malformatie (aandoening)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ontwikkelingsstoornis\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ontwikkelingsstoornis\Developmental hereditary disorder\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
\Disease\ontwikkelingsstoornis\congenitale malformatie (aandoening)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)\FBLN1-related developmental delay, central nervous system anomaly, syndactyly 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
3727872015	FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	en	synoniem (metadata)	Active	gehele beschrijving hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3727873013	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)	en	volledig gespecificeerde naam (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: voorkeursterm
3727874019	Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome	en	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	module van internationale editie (metadata)	Brits-Engelse taalreferentieset: acceptabel
6800921000146112	syndroom van fibuline-1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie (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
6800931000146114	syndroom van fibuline-1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie	nl	synoniem (metadata)	Active	gehele beschrijving niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: voorkeursterm
6940601000146112	syndroom van FBLN1-gerelateerde ontwikkelingsachterstand, malformatie van centraal zenuwstelsel en syndactylie	nl	synoniem (metadata)	Active	alleen eerste karakter niet-hoofdlettergevoelig	SNOMED CT Netherlands NRC maintained module (core metadata concept)	Netherlands Dutch language reference set: acceptabel
3727875018	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.	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
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Associated morphology	congenitale afwijkende fusie	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	locatie van bevinding	structuur van systema nervosum centrale (lichaamsstructuur)	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Associated morphology	Morphologically abnormal structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Autosomal recessive hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	locatie van bevinding	Digit structure	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Hereditary disorder of nervous system	true	geïnfereerde relatie	existentiële restrictie (metadata)
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Congenital anomaly of central nervous system	true	geïnfereerde relatie	existentiële restrictie (metadata)
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Syndactyly (disorder)	true	geïnfereerde relatie	existentiële restrictie (metadata)
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Occurrence	congenitaal	true	geïnfereerde relatie	existentiële restrictie (metadata)	2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Intellectual disability	true	geïnfereerde relatie	existentiële restrictie (metadata)
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Pathological process (attribute)	proces van pathologische ontwikkeling	true	geïnfereerde relatie	existentiële restrictie (metadata)	1
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	geïnfereerde relatie	existentiële restrictie (metadata)
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	Developmental hereditary disorder	true	geïnfereerde relatie	existentiële restrictie (metadata)

Inbound Relationships

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Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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