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1172839002: Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4636155017 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636156016 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399414014 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399415010 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterised by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4636155017 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636156016 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636157013 A rare genetic neurometabolic disease with characteristics of global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. The usual presentation is metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399414014 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399415010 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterised by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3449561001000116 Letale linksventrikuläre Noncompaction-Kardiomyopathie-Krämpfe-Hypotonie-Katarakt-Entwicklungsverzögerung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6388331000241111 syndrome létal de non-compaction ventriculaire gauche, convulsions, hypotonie, cataracte et retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6388331000241111 syndrome létal de non-compaction ventriculaire gauche, convulsions, hypotonie, cataracte et retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449561001000116 Letale linksventrikuläre Noncompaction-Kardiomyopathie-Krämpfe-Hypotonie-Katarakt-Entwicklungsverzögerung-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
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Is a Disorder of mitochondrial respiratory chain complexes (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Is a Left ventricular myocardial noncompaction cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Finding site Structure of myocardium of left ventricle true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Is a Mitochondrial cardiomyopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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