717945001: syndroom van malformatie van hersenen, ernstige verstandelijke beperking, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier (aandoening)

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

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

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

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\BRESEK syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\BRESEK syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\BRESEK syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\BRESEK syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\BRESEK syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\BRESEK syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324423016 Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3324424010 BRESEK syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324426012 X-linked mental retardation Reish type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5155338014 Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5155339018 Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5155341017 BRESEK (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6911551000146111 BRESEK-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6911561000146114 syndroom van malformatie van hersenen, ernstige mentale retardatie, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7495701000146116 syndroom van malformatie van hersenen, ernstige verstandelijke beperking, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7719581000146112 syndroom van malformatie van hersenen, ernstige verstandelijke beperking, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7796261000146112 syndroom van malformatie van hersenen, ernstige verstandelijke handicap, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5155340016 X-linked syndrome with characteristics of brain anomalies, severe intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). It has been described in two brothers, one of who died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked 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
BRESEK syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
BRESEK syndrome	Is a	mentale retardatie	false	Inferred relationship	Some
BRESEK syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
BRESEK syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
BRESEK syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
BRESEK syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
BRESEK syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
BRESEK syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
BRESEK syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
BRESEK syndrome	Is a	X-linked dominant hereditary disease (disorder)	true	Inferred relationship	Some
BRESEK syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
BRESEK syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
BRESEK syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
BRESEK 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
3324423016	Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324424010	BRESEK syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324426012	X-linked mental retardation Reish type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5155338014	Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5155339018	Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5155341017	BRESEK (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6911551000146111	BRESEK-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6911561000146114	syndroom van malformatie van hersenen, ernstige mentale retardatie, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495701000146116	syndroom van malformatie van hersenen, ernstige verstandelijke beperking, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7719581000146112	syndroom van malformatie van hersenen, ernstige verstandelijke beperking, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7796261000146112	syndroom van malformatie van hersenen, ernstige verstandelijke handicap, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5155340016	X-linked syndrome with characteristics of brain anomalies, severe intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). It has been described in two brothers, one of who died shortly after birth. One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome). Transmission is X-linked dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core