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719010001: X-linked intellectual disability Schimke type (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
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
5401913011 A rare X-linked syndromic intellectual disability characterized by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401914017 A rare X-linked syndromic intellectual disability characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. 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) Is a Mental retardation false Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) Is a Intellectual disability true Inferred relationship Some
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) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
X-linked intellectual disability Schimke type (disorder) Has interpretation Impaired true Inferred relationship Some 2
X-linked intellectual disability Schimke type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
X-linked intellectual disability Schimke type (disorder) Has interpretation Impaired true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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