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763280005: Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3638382019 Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638383012 Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403993017 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3638382019 Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638383012 Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3638384018 A rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403993017 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3451951001000111 Enzephalopathie mit hypertropher Kardiomyopathie und renal-tubulärer Störung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
941361000172116 syndrome d'encéphalopathie-cardiomyopathie hypertrophique-néphropathie tubulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
941361000172116 syndrome d'encéphalopathie-cardiomyopathie hypertrophique-néphropathie tubulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451951001000111 Enzephalopathie mit hypertropher Kardiomyopathie und renal-tubulärer Störung 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
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Due to Coenzyme Q10 deficiency (disorder) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Disorder of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Cardiomyopathy associated with another disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Hypertrophic cardiomyopathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Mitochondrial cytopathy (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Peripheral neuropathy due to metabolic disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Congenital cardiovascular disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Finding site Peripheral nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Hypertrophic cardiomyopathy due to disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Hypertrophic mitochondrial cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Coenzyme Q10 deficiency (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Renal tubular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Finding site Renal tubule structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Central nervous system complication true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Urinary complication true Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome Is a Metabolic renal disease 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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