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82077006: Myotubular myopathy (disorder)

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
136147016 Myotubular myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136148014 Centronuclear myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
823423014 Myotubular myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
136147016 Myotubular myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136147016 Myotubular myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136148014 Centronuclear myopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
136148014 Centronuclear myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
823423014 Myotubular myopathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
823423014 Myotubular myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
537561000172110 myopathie myotubulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
537561000172110 myopathie myotubulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myotubular myopathy Is a Congenital myopathy false Inferred relationship Existential restriction modifier (core metadata concept)
Myotubular myopathy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Myotubular myopathy Is a Disorder of skeletal muscle false Inferred relationship Existential restriction modifier (core metadata concept)
Myotubular myopathy Is a Congenital anomaly of skeletal muscle (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Myotubular myopathy Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Myotubular myopathy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Myotubular myopathy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Myotubular myopathy Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Myotubular myopathy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Myotubular myopathy Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Myotubular myopathy Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Myotubular myopathy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Myotubular myopathy Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Myotubular myopathy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive centronuclear myopathy Is a True Myotubular myopathy Inferred relationship Existential restriction modifier (core metadata concept)
Myotubular myopathy with type I atrophy Is a True Myotubular myopathy Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked myotubular myopathy (disorder) Is a True Myotubular myopathy Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant centronuclear myopathy Is a True Myotubular myopathy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Is a True Myotubular myopathy Inferred relationship Existential restriction modifier (core metadata concept)
Symptomatic form of X-linked centronuclear myopathy in female carrier (disorder) Is a True Myotubular myopathy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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