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19557000: Hyperexplexia (finding)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
32925015 Hyperexplexia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747808015 Hyperexplexia (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1222324013 Hyperekplexia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1222325014 Startle syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
68791000077110 hyperekplexie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperexplexia Is a Abnormal reflex true Inferred relationship Some
Hyperexplexia Is a Myoclonus true Inferred relationship Some
Hyperexplexia Interprets Gross movement of body and limbs false Inferred relationship Some
Hyperexplexia Finding site Nerve structure false Inferred relationship Some
Hyperexplexia Interprets Reflex false Inferred relationship Some 2
Hyperexplexia Interprets Nervous system function false Inferred relationship Some
Hyperexplexia Interprets mouvement false Inferred relationship Some
Hyperexplexia Has interpretation Abnormal false Inferred relationship Some 1
Hyperexplexia Interprets Reflex false Inferred relationship Some 1
Hyperexplexia Has interpretation Abnormal true Inferred relationship Some 1
Hyperexplexia Interprets Determination of a value, conclusion, or inference by evaluating evidence false Inferred relationship Some 1
Hyperexplexia Interprets Movement observable false Inferred relationship Some
Hyperexplexia Finding site Skeletal and/or smooth muscle structure (body structure) false Inferred relationship Some 3
Hyperexplexia Interprets mouvement false Inferred relationship Some 4
Hyperexplexia Interprets Reflex observable true Inferred relationship Some 1
Hyperexplexia Finding site Skeletal and/or smooth muscle structure (body structure) true Inferred relationship Some 2
Hyperexplexia Interprets mouvement false Inferred relationship Some 3
Hyperexplexia Interprets Movement observable true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Is a True Hyperexplexia Inferred relationship Some
A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia. Is a True Hyperexplexia Inferred relationship Some
A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. Is a True Hyperexplexia Inferred relationship Some

This concept is not in any reference sets

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