FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

719102004: Congenital cataract with ataxia and deafness 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
3314990018 Congenital cataract with ataxia and deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314991019 Congenital cataract with ataxia and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314992014 This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. 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
Congenital cataract with ataxia and deafness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Congenital cataract with ataxia and deafness syndrome (disorder) localisation d'une constatation (attribut) cristallin true Inferred relationship Some 1
Congenital cataract with ataxia and deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataract with ataxia and deafness syndrome (disorder) morphologie associée (attribut) Cataract false Inferred relationship Some 1
Congenital cataract with ataxia and deafness syndrome (disorder) morphologie associée (attribut) opacité true Inferred relationship Some 1
Congenital cataract with ataxia and deafness syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 2
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Chronic mental disorder true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) trouble neurologique chronique true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 4
Congenital cataract with ataxia and deafness syndrome (disorder) localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 5
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Ataxia false Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Sensorineural hearing loss true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Congenital cataract true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 2
Congenital cataract with ataxia and deafness syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 3
Congenital cataract with ataxia and deafness syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) morphologie associée (attribut) Congenital cataract false Inferred relationship Some 4
Congenital cataract with ataxia and deafness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Congenital cataract with ataxia and deafness syndrome (disorder) localisation d'une constatation (attribut) cristallin false Inferred relationship Some 4
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) Hereditary ataxia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start