768677000: Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3686455015	PPP2R5D-related intellectual disability	en	Synonym	Active	Case sensitive	SNOMED CT core
3686456019	PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) related intellectual disability	en	Synonym	Active	Case sensitive	SNOMED CT core
3686457011	Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3686458018	Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3686459014	A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability. Additional manifestations may include hypotonia, delayed development of motor skills, delayed speech development, recurrent seizures, autism spectrum disorder, macrocephaly and unusual facial features including frontal bossing, hypertelorism and downslanting palpebral fissures. Caused by mutations in the PPP2R5D gene, which provides instructions for making B56-delta resulting in the production of an altered B56 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo gene mutation.	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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