46804001: Severe X-linked myotubular myopathy (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy (disorder)
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Severe X-linked myotubular myopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Severe X-linked myotubular myopathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Severe X-linked myotubular myopathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked myotubular myopathy (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Severe X-linked myotubular myopathy (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Severe X-linked 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
4637471015	Severe X-linked myotubular myopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4637472010	Severe X-linked myotubular myopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
494651015	X-linked centronuclear myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
78016011	Severe x-linked myotubular myopathy	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
784194017	Severe x-linked myotubular myopathy (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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