1236844002: Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)

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

\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)

\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)

\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (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\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5089274018 Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5089275017 EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5089276016 Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5089278015 A rare congenital myopathy with characteristics of early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13825631000172115 vroeg optredend syndroom van myopathie, areflexie, ademnood en slikstoornis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13825641000172110 vroeg optredend syndroom van myopathie, areflexie, 'respiratory distress' en dysfagie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13825651000172112 vroeg optredend syndroom van myopathie, areflexie, respiratoire distress en dysfagie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13825661000172114 EMARDD-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Is a	Muscle weakness	true	Inferred relationship	Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (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
5089274018	Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089275017	EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5089276016	Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5089278015	A rare congenital myopathy with characteristics of early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13825631000172115	vroeg optredend syndroom van myopathie, areflexie, ademnood en slikstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13825641000172110	vroeg optredend syndroom van myopathie, areflexie, 'respiratory distress' en dysfagie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13825651000172112	vroeg optredend syndroom van myopathie, areflexie, respiratoire distress en dysfagie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13825661000172114	EMARDD-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)