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

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\...

\Finding of left ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome

\Myocardial finding\Myocardial disease\Cardiomyopathy\...

\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome

\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome

\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Finding of left ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome

\Cardiovascular finding\Cardiac finding\Finding of left ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Disorder of cardiac ventricle\Disorder of left cardiac ventricle\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy\Left ventricular myocardial noncompaction cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Myocardial disease\Cardiomyopathy\Cardiomyopathy associated with another disorder\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Cardiac complication\Mitochondrial cardiomyopathy\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome

Status: current, Primitive. 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 Active Case insensitive SNOMED CT core

4636156016 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	Mitochondrial respiratory chain complexes disorder	true	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	Left ventricular myocardial noncompaction cardiomyopathy	true	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Finding site	Structure of nervous system	true	Inferred relationship	Some	2
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Finding site	Structure of myocardium of left ventricle	true	Inferred relationship	Some	3
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Is a	Mitochondrial cardiomyopathy	true	Inferred relationship	Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	Due to	Mitochondrial cytopathy	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4636155017	Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4636156016	Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core