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

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
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
3324422014 Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324422014 Brain anomaly, severe mental retardation, 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
3324423016 Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome en Synonym (core metadata concept) Active Only initial character 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 Active 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 Active 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
3381171001000118 BRESEK-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5749111000241115 retard mental lié à l'X de type Reish fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5749131000241112 syndrome d'anomalie cérébrale, déficience intellectuelle sévère, dysplasie ectodermique, déformation du squelette, anomalie de l'oreille et dysplasie rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5749141000241119 syndrome BRESEK (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5749111000241115 retard mental lié à l'X de type Reish fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5749131000241112 syndrome d'anomalie cérébrale, déficience intellectuelle sévère, dysplasie ectodermique, déformation du squelette, anomalie de l'oreille et dysplasie rénale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5749141000241119 syndrome BRESEK (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381171001000118 BRESEK-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a X-linked dominant hereditary disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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