717945001: Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)

• 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
3324422014	Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
3324442017	X-linked mental retardation with characteristics of Brain anomalies, severe mental Retardation, 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 whom 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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401650014	A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), 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. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401651013	A rare genetic, multiple congenital malformation syndrome characterised by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), 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. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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