125429001: Mitochondrial enlargement (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Cellular AND/OR subcellular abnormality\Abnormal cell structure\Mitochondrial enlargement (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

193919013 Mitochondrial enlargement en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203354010 Mitochondrial swelling en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

203355011 Megaconial disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

729254016 Mitochondrial enlargement (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial enlargement (morphologic abnormality)	Is a	Abnormal cell structure	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic, skeletal muscle disease with characteristics of early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibres.	Associated morphology	True	Mitochondrial enlargement (morphologic abnormality)	Inferred relationship	Some	1

This concept is not in any reference sets