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719009006: déficience intellectuelle liée à l'X type Wilson (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
3314655012 X-linked intellectual disability Wilson type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314656013 X-linked intellectual disability Wilson type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
753381000241110 déficience intellectuelle liée à l'X type Wilson (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
922811000172116 déficience intellectuelle liée à l'X type Wilson fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3314657016 This syndrome has characteristics of severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been located to the 11p region of the X chromosome. 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
X-linked intellectual disability Wilson type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Wilson type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Wilson type (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
X-linked intellectual disability Wilson type (disorder) est un(e) (attribut) X-linked hereditary disease true Inferred relationship Some
X-linked intellectual disability Wilson type (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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