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720567008: Bosley Salih Alorainy 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
3321265014 Bosley Salih Alorainy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321266010 Bosley Salih Alorainy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321267018 Syndrome with characteristics of variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies, cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome, however unlike Athabaskan brain dysfunction syndrome it does not manifest central hypoventilation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bosley Salih Alorainy syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Bosley Salih Alorainy syndrome (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 1
Bosley Salih Alorainy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Bosley Salih Alorainy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 2
Bosley Salih Alorainy syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 3
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 3
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 2
Bosley Salih Alorainy syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Bosley Salih Alorainy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Bosley Salih Alorainy syndrome (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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