1201862006: Autosomal recessive central core disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Central core disease\Autosomal recessive central core disease

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Central core disease\Autosomal recessive central core disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Central core disease\Autosomal recessive central core disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive central core disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Central core disease\Autosomal recessive central core disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Central core disease\Autosomal recessive central core disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Central core disease\Autosomal recessive central core disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease
\Disease\Developmental disorder\Developmental hereditary disorder\Central core disease\Autosomal recessive central core disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Central core disease\Autosomal recessive central core disease

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4945369015 Autosomal recessive central core disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4945370019 Autosomal recessive central core disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4945371015 Autosomal recessive central core myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4945372010 An autosomal recessive hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5623491000052114 autosomalt recessiv central core-sjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive central core disease	Is a	Central core disease	true	Inferred relationship	Some
Autosomal recessive central core disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive central core disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive central core disease	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal recessive central core disease	Associated morphology	Central cores	true	Inferred relationship	Some	1
Autosomal recessive central core disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4945369015	Autosomal recessive central core disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945370019	Autosomal recessive central core disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945371015	Autosomal recessive central core myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945372010	An autosomal recessive hereditary neuromuscular disorder with characteristics of central cores on muscle biopsy and clinical features of a congenital myopathy. Typical presentation is in infancy with hypotonia and motor developmental delay and predominantly proximal weakness pronounced in the hip girdle. Caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes in the RyR protein are considered to be the main pathogenetic mechanism(s).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5623491000052114	autosomalt recessiv central core-sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)