1201861004: Autosomal dominant 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 dominant central core disease (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal dominant central core disease (disorder)

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

\Hereditary disorder of musculoskeletal system\Central core disease\Autosomal dominant central core disease (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal dominant central core disease (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Central core disease\Autosomal dominant central core disease (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Central core disease\Autosomal dominant central core disease (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Central core disease\Autosomal dominant central core disease (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Central core disease\Autosomal dominant central core disease (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant central core disease (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Central core disease\Autosomal dominant central core disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Central core disease\Autosomal dominant central core disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal dominant central core disease (disorder)
\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 dominant central core disease (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal dominant central core disease (disorder)
\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 dominant central core disease (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Central core disease\Autosomal dominant central core disease (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Central core disease\Autosomal dominant central core disease (disorder)
\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 dominant central core disease (disorder)

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

4945365014 Autosomal dominant central core disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4945366010 Autosomal dominant central core disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4945367018 Autosomal dominant central core myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4945368011 An autosomal dominant 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

5628331000052112 autosomalt dominant 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 dominant central core disease (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant central core disease (disorder)	Is a	Central core disease	true	Inferred relationship	Some
Autosomal dominant central core disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant central core disease (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Autosomal dominant central core disease (disorder)	Associated morphology	Central cores	true	Inferred relationship	Some	1
Autosomal dominant central core disease (disorder)	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
4945365014	Autosomal dominant central core disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945366010	Autosomal dominant central core disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945367018	Autosomal dominant central core myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4945368011	An autosomal dominant 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
5628331000052112	autosomalt dominant 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)