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

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686455015	PPP2R5D-related intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686456019	PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) related intellectual disability	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686457011	Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3686458018	Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

Back to Start