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398100001: Hereditary motor and sensory neuropathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2003. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
1766019012 Hereditary motor and sensory neuropathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1777664015 Hereditary motor and sensory neuropathy en Synonym Active Entire term case insensitive SNOMED CT core module
1786097018 Hereditary sensory and motor neuropathy en Synonym Active Entire term case insensitive SNOMED CT core module
1786098011 Hereditary sensory-motor neuropathy en Synonym Active Entire term case insensitive SNOMED CT core module
1786099015 HSMN en Synonym Active Entire term case sensitive SNOMED CT core module
1786100011 HMSN en Synonym Active Entire term case sensitive SNOMED CT core module
1786101010 HMSN - Hereditary motor and sensory neuropathy en Synonym Active Entire term case sensitive SNOMED CT core module
1786102015 HSMN - Hereditary sensory and motor neuropathy en Synonym Active Entire term case sensitive SNOMED CT core module
1786103013 Hereditary sensorimotor neuropathy en Synonym Active Entire term case insensitive SNOMED CT core module
3007425011 CMT - Charcot-Marie-Tooth disease en Synonym Active Entire term case sensitive SNOMED CT core module


107 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary motor and sensory neuropathy Is a Hereditary peripheral neuropathy true Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked hereditary motor and sensory neuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Déjérine-Sottas disease Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary sensory neuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy with optic atrophy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy with retinitis pigmentosa Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Phytanic acid storage disease Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease Is a False Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary sensory-motor neuropathy, type V Is a False Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Peroneal muscular atrophy NOS Is a False Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Roussy-Levy syndrome Is a False Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Agenesis of corpus callosum with peripheral neuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Family history of Charcot-Marie-Tooth disease Associated finding False Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier 2
Charcot-Marie-Tooth disease, type II Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, type I Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 4 Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary thermosensitive neuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy Okinawa type Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a False Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal dominant slowed nerve conduction velocity Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy type 5 Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy with acrodystrophy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Hereditary sensorimotor neuropathy with hyperelastic skin Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Roussy-Lévy syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Family history of Charcot-Marie-Tooth disease Associated finding True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier 1
Congenital axonal neuropathy with encephalopathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier
Peroneal muscular atrophy NOS Is a False Hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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