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1186711002: G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4667394010 GNB5-related intellectual disability, cardiac arrhythmia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4673230016 G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4673231017 G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399508017 A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399509013 A rare genetic disease characterised by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastro-oesophageal reflux. The severity of the phenotype is highly variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667394010 GNB5-related intellectual disability, cardiac arrhythmia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4673230016 G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4673231017 G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667397015 A rare genetic disease characterized by intellectual disability, developmental delay, language deficits and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism and gastro-esophageal reflux. The severity of the phenotype is highly variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667398013 A rare genetic disease characterised by intellectual disability, developmental delay, language deficits and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism and gastro-oesophageal reflux. The severity of the phenotype is highly variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399508017 A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399509013 A rare genetic disease characterised by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastro-oesophageal reflux. The severity of the phenotype is highly variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428211001000111 Intelligenzminderung-Herzrhythmusstörung-Syndrom durch GNB5-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6158851000241111 syndrome de déficience intellectuelle et arythmie cardiaque associé à GNB5 (G protein subunit beta 5) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6158851000241111 syndrome de déficience intellectuelle et arythmie cardiaque associé à GNB5 (G protein subunit beta 5) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428211001000111 Intelligenzminderung-Herzrhythmusstörung-Syndrom durch GNB5-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a A disorder in which there is abnormal electrical activity in the heart associated with a genetic disorder. true Inferred relationship Existential restriction modifier (core metadata concept)
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
GNB5-related intellectual disability, cardiac arrhythmia syndrome Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
GNB5-related intellectual disability, cardiac arrhythmia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
GNB5-related intellectual disability, cardiac arrhythmia syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
GNB5-related intellectual disability, cardiac arrhythmia syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
GNB5-related intellectual disability, cardiac arrhythmia syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
GNB5-related intellectual disability, cardiac arrhythmia syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
GNB5-related intellectual disability, cardiac arrhythmia syndrome Finding site Cardiac conducting system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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