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1362108000: Genetic intellectual disability (disorder)

Status: current, 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
5444307014 Genetic intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444308016 Genetic intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

538 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic intellectual disability Is a Intellectual disability true Inferred relationship Some
Genetic intellectual disability Is a Genetic disease true Inferred relationship Some
Genetic intellectual disability Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Genetic intellectual disability Interprets Intellectual ability (observable entity) true Inferred relationship Some 1
Genetic intellectual disability Has interpretation Impaired true Inferred relationship Some 1
Genetic intellectual disability Interprets Adaptation behavior (observable entity) true Inferred relationship Some 2
Genetic intellectual disability Has interpretation Impaired true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Ossification anomaly with psychomotor developmental delay syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Is a True Genetic intellectual disability Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Is a True Genetic intellectual disability Inferred relationship Some
5p13 microduplication syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
9q31.1q31.3 microdeletion syndrome Is a True Genetic intellectual disability Inferred relationship Some
14q24.1q24.3 microdeletion syndrome Is a True Genetic intellectual disability Inferred relationship Some
Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Potocki-Shaffer syndrome Is a True Genetic intellectual disability Inferred relationship Some
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cherubism with gingival fibromatosis (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Dibasic amino aciduria type 1 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Neuronal ceroid lipofuscinosis type 8 Is a True Genetic intellectual disability Inferred relationship Some
Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some

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