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


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

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 SNOMED CT core module
5089275017 EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5089276016 Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a Muscle weakness true Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a Congenital anomaly of skeletal muscle true Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 1
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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