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719010001: déficience intellectuelle liée à l'X type Schimke (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
3314658014 X-linked intellectual disability Schimke type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314659018 X-linked intellectual disability Schimke type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
753391000241112 déficience intellectuelle liée à l'X type Schimke (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
979461000172112 déficience intellectuelle liée à l'X type Schimke fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3314660011 X-linked mental retardation Schimke type has characteristics of intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. 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 Schimke type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Schimke type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Schimke 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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