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1186730002: Gabriele-de Vries syndrome (disorder)


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
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
12202601000172110 syndrome de Gabriele-de Vries fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
12202611000172113 syndrome par haploinsuffisance de YY1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
7258511000172118 syndroom van Gabriele-de Vries nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
7258521000172111 Gabriele-de Vries-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
7258531000172114 syndroom door haplo-insufficiëntie van YY1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
7258541000172119 syndroom door haplo-insufficiëntie van Yin-Yang1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

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

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