1187122000: 'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Witteveen Kolk syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Witteveen Kolk syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Witteveen Kolk syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Witteveen Kolk syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Witteveen Kolk syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Witteveen Kolk syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Witteveen Kolk syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Witteveen Kolk syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Witteveen Kolk syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4669983012 WITKOS - Witteveen Kolk syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4669984018 Witteveen Kolk syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4669986016 Witteveen Kolk syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4669987013 SIN3A-related intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4669992010 SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

13251061000146117 'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13251071000146111 SIN3A-gerelateerd syndroom van mentale retardatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13251081000146113 SIN3A-gerelateerd syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13251091000146110 SIN3A-gerelateerd syndroom van verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13251101000146115 'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13251111000146118 syndroom van Witteveen-Kolk nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13309891000146118 Witteveen-Kolk-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13309901000146117 WITKOS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4669990019 A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities. The disorder is either caused by mutations in Switch-insensitive 3 transcription regulator family member A (SIN3A; 15q24.2) or microdeletions, of various sizes, in the chromosome region 15q24 (15q24 microdeletion syndrome). The microdeletions often, but not always, encompass SIN3A. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4669991015 A rare genetic neurodevelopmental syndrome characterised by mild intellectual disability, developmental delay, dysmorphic facial features, growth and feeding problems, hypotonia, epilepsy, behavioural problems and a variety of congenital abnormalities. The disorder is either caused by mutations in Switch-insensitive 3 transcription regulator family member A (SIN3A; 15q24.2) or microdeletions, of various sizes, in the chromosome region 15q24 (15q24 microdeletion syndrome). The microdeletions often, but not always, encompass SIN3A. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Witteveen Kolk syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Witteveen Kolk syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Witteveen Kolk syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Witteveen Kolk syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Witteveen Kolk syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Witteveen Kolk syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Witteveen Kolk syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Witteveen Kolk syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Witteveen Kolk syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Witteveen Kolk syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Witteveen Kolk syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Witteveen Kolk syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4669983012	WITKOS - Witteveen Kolk syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669984018	Witteveen Kolk syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669986016	Witteveen Kolk syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669987013	SIN3A-related intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669992010	SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13251061000146117	'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13251071000146111	SIN3A-gerelateerd syndroom van mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13251081000146113	SIN3A-gerelateerd syndroom van verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13251091000146110	SIN3A-gerelateerd syndroom van verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13251101000146115	'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13251111000146118	syndroom van Witteveen-Kolk	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13309891000146118	Witteveen-Kolk-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13309901000146117	WITKOS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4669990019	A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities. The disorder is either caused by mutations in Switch-insensitive 3 transcription regulator family member A (SIN3A; 15q24.2) or microdeletions, of various sizes, in the chromosome region 15q24 (15q24 microdeletion syndrome). The microdeletions often, but not always, encompass SIN3A. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4669991015	A rare genetic neurodevelopmental syndrome characterised by mild intellectual disability, developmental delay, dysmorphic facial features, growth and feeding problems, hypotonia, epilepsy, behavioural problems and a variety of congenital abnormalities. The disorder is either caused by mutations in Switch-insensitive 3 transcription regulator family member A (SIN3A; 15q24.2) or microdeletions, of various sizes, in the chromosome region 15q24 (15q24 microdeletion syndrome). The microdeletions often, but not always, encompass SIN3A. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core