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1186718008: Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder)


Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4667423010 Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4667424016 Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome en Synonym Active Case insensitive SNOMED CT core
4667425015 Coenzyme Q4-related neonatal encephalomyopathy en Synonym Active Initial character case insensitive SNOMED CT core
4667426019 COQ4-related neonatal encephalomyopathy en Synonym Active Case sensitive SNOMED CT core
4667427011 A rare mitochondrial disease with characteristics of neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Metabolic neuropathy true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Neonatal cardiovascular disorder true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Mitochondrial encephalomyopathy true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Hypertrophic mitochondrial cardiomyopathy true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Coenzyme Q10 deficiency true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Neonatal metabolic disorder true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Central nervous system complication true Inferred relationship Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Due to Mitochondrial cytopathy true Inferred relationship Some 5
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Finding site Nerve structure true Inferred relationship Some 4
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Occurrence Neonatal true Inferred relationship Some 2
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Finding site Brain structure true Inferred relationship Some 2
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Occurrence Neonatal true Inferred relationship Some 3
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Finding site Skeletal muscle structure true Inferred relationship Some 3
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Finding site Myocardium structure true Inferred relationship Some 1
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Associated morphology Hypertrophy true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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