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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. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4636155017 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4636156016 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core 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 Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a Disorder of mitochondrial respiratory chain complexes true Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a Left ventricular myocardial noncompaction cardiomyopathy true Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 2
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Finding site Structure of myocardium of left ventricle true Inferred relationship Existential restriction modifier 3
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a Mitochondrial cardiomyopathy true Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Due to Mitochondrial cytopathy true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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