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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
4667424016 Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667425015 Coenzyme Q4-related neonatal encephalomyopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667426019 COQ4-related neonatal encephalomyopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399518010 A rare mitochondrial disease characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399519019 A rare mitochondrial disease characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
4667423010 Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667424016 Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667425015 Coenzyme Q4-related neonatal encephalomyopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4667426019 COQ4-related neonatal encephalomyopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399518010 A rare mitochondrial disease characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399519019 A rare mitochondrial disease characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3392781001000114 Neonatale Enzephalomyopathie-Kardiomyopathie-Atemnot-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3392781001000114 Neonatale Enzephalomyopathie-Kardiomyopathie-Atemnot-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Neonatal cardiovascular disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Mitochondrial encephalomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Hypertrophic mitochondrial cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Coenzyme Q10 deficiency (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Neonatal metabolic disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Central nervous system complication true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Finding site Nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 3
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a Secondary myopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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