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720468000: syndrome d'aniridie-déficience intellectuelle (trouble)


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
3320942018 Aniridia and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320943011 Aniridia and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755461000241113 syndrome d'aniridie-déficience intellectuelle (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
897461000172115 syndrome d'aniridie-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
987591000172116 syndrome de Walker-Dyson fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3320944017 An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. 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
Aniridia and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aniridia and intellectual disability syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Aniridia and intellectual disability syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) est un(e) (attribut) Congenital aniridia (disorder) true Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 1
Aniridia and intellectual disability syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Aniridia and intellectual disability syndrome (disorder) localisation d'une constatation (attribut) iris true Inferred relationship Some 1
Aniridia and intellectual disability syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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