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447935001: Left ventricular myocardial noncompaction cardiomyopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2011. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2899072017 Left ventricular myocardial noncompaction cardiomyopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2900592014 Left ventricular myocardial noncompaction cardiomyopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5362641000241113 cardiomyopathie par non-compaction du ventricule gauche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416111001000111 Linksventrikuläre Noncompaction-Kardiomyopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Left ventricular myocardial noncompaction cardiomyopathy (disorder) Is a Disorder of left cardiac ventricle (disorder) true Inferred relationship Some
Left ventricular myocardial noncompaction cardiomyopathy (disorder) Is a Cardiomyopathy false Inferred relationship Some
Left ventricular myocardial noncompaction cardiomyopathy (disorder) Finding site Structure of myocardium of left ventricle true Inferred relationship Some 1
Left ventricular myocardial noncompaction cardiomyopathy (disorder) Is a Ventricular myocardial noncompaction cardiomyopathy (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True Left ventricular myocardial noncompaction cardiomyopathy (disorder) Inferred relationship Some
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. Is a True Left ventricular myocardial noncompaction cardiomyopathy (disorder) Inferred relationship Some

This concept is not in any reference sets

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