766977007: Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3663537014	Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3663538016	Severe early-onset axonal neuropathy due to MFN2 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3663539012	Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3663540014	Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3663541013	Severe early-onset axonal neuropathy due to mitofusin 2 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3663542018	A rare axonal hereditary motor and sensory neuropathy with early onset (less than 10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start