719010001: X-linked intellectual disability Schimke type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability Schimke type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability Schimke type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Schimke type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Schimke type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Schimke type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Schimke type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Schimke type
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Schimke type

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3314659018	X-linked intellectual disability Schimke type	en	Synonym	Active	Case sensitive	SNOMED CT core
5155245012	X-linked intellectual disability 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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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