1186730002: Gabriele-de Vries-syndroom (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\Gabriele-de Vries 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\Gabriele-de Vries 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\Gabriele-de Vries syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Gabriele-de Vries syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Gabriele-de Vries syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Gabriele-de Vries syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Gabriele-de Vries syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Gabriele-de Vries syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Gabriele-de Vries 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\Gabriele-de Vries 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\Gabriele-de Vries syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Gabriele-de Vries syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Gabriele-de Vries syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Gabriele-de Vries syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Gabriele-de Vries syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Gabriele-de Vries syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Gabriele-de Vries 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

4667487013 YY1 haploinsufficiency syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4667488015 Gabriele-de Vries syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4667489011 Gabriele-de Vries syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

13244781000146111 syndroom door haplo-insufficiëntie van YY1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13244791000146113 syndroom door haplo-insufficiëntie van Yin-Yang1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13244801000146112 syndroom van Gabriele-de Vries nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13308891000146114 Gabriele-de Vries-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13308901000146110 Gabriele-de Vries-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4667493017 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioural alterations (autism, hyperactivity, or anxiety). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4667494011 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety). 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
Gabriele-de Vries syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Gabriele-de Vries syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Gabriele-de Vries syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Gabriele-de Vries syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Gabriele-de Vries syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Gabriele-de Vries syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Gabriele-de Vries syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Gabriele-de Vries syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Gabriele-de Vries syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Gabriele-de Vries syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Gabriele-de Vries syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Gabriele-de Vries 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
4667487013	YY1 haploinsufficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667488015	Gabriele-de Vries syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667489011	Gabriele-de Vries syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13244781000146111	syndroom door haplo-insufficiëntie van YY1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244791000146113	syndroom door haplo-insufficiëntie van Yin-Yang1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13244801000146112	syndroom van Gabriele-de Vries	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13308891000146114	Gabriele-de Vries-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13308901000146110	Gabriele-de Vries-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4667493017	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioural alterations (autism, hyperactivity, or anxiety).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667494011	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, movement disorder or gait abnormalities and dysmorphic craniofacial features (such as facial asymmetry, broad forehead, posteriorly rotated ears, thick lower lip, micrognathia, or cleft palate). A variety of congenital malformations have been reported in addition, including ocular, renal, cardiac and joint anomalies, among others. Some patients show behavioral alterations (autism, hyperactivity, or anxiety).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core