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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
    7647681000241115 déficience intellectuelle associée à PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    déficience intellectuelle associée à PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) Is a Intellectual disability false Inferred relationship Some
    déficience intellectuelle associée à PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
    déficience intellectuelle associée à PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) Interprets Intellectual ability false Inferred relationship Some 2
    déficience intellectuelle associée à PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) Has interpretation Impaired false Inferred relationship Some 2
    déficience intellectuelle associée à PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) Interprets Adaptation behavior (observable entity) false Inferred relationship Some 3
    déficience intellectuelle associée à PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) Has interpretation Impaired false Inferred relationship Some 3
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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