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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3663538016 Severe early-onset axonal neuropathy due to MFN2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3663539012 Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3663540014 Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663541013 Severe early-onset axonal neuropathy due to mitofusin 2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
4170391000052118 svår tidigt debuterande axonal neuropati orsakad av mitofusin 2-brist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1

Inbound Relationships

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Source

Characteristic

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Reference Sets

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US English

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Id	Description	Lang	Type	Status	Case?	Module
3663537014	Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3663538016	Severe early-onset axonal neuropathy due to MFN2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3663539012	Autosomal recessive Charcot-Marie-Tooth disease Ouvrier type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3663540014	Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663541013	Severe early-onset axonal neuropathy due to mitofusin 2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4170391000052118	svår tidigt debuterande axonal neuropati orsakad av mitofusin 2-brist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)