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

  • SNOMED CT Concept\Clinical finding (finding)\...
    • \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\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.
    • \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\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.
    • \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\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.
    • \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Intellectual disability true Inferred relationship Some
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. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
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. Interprets Intellectual ability true Inferred relationship Some 2
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. Has interpretation Impaired true Inferred relationship Some 2
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. Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
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. Has interpretation Impaired true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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