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398100001: Hereditary motor and sensory neuropathy (disorder)

Status: current, Primitive. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

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

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 Some
Hereditary motor and sensory neuropathy Finding site Peripheral nervous system structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary sensorimotor neuropathy with hyperelastic skin Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Roussy-Lévy syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
PMP22-RAI1 contiguous gene duplication syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Family history of Charcot-Marie-Tooth disease Associated finding True Hereditary motor and sensory neuropathy Inferred relationship Some 1
Congenital axonal neuropathy with encephalopathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Déjérine-Sottas disease Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary sensory neuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary motor and sensory neuropathy with optic atrophy Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary motor and sensory neuropathy with retinitis pigmentosa Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Phytanic acid storage disease Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Charcot-Marie-Tooth disease Is a False Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary sensory-motor neuropathy, type V Is a False Hereditary motor and sensory neuropathy Inferred relationship Some
Peroneal muscular atrophy NOS Is a False Hereditary motor and sensory neuropathy Inferred relationship Some
Roussy-Levy syndrome Is a False Hereditary motor and sensory neuropathy Inferred relationship Some
Andermann syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Family history of Charcot-Marie-Tooth disease Associated finding False Hereditary motor and sensory neuropathy Inferred relationship Some 2
Charcot-Marie-Tooth disease, type II Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Charcot-Marie-Tooth disease, type I Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Charcot-Marie-Tooth disease type 4 Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary thermosensitive neuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary motor and sensory neuropathy Okinawa type Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a False Hereditary motor and sensory neuropathy Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal dominant slowed nerve conduction velocity Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary motor and sensory neuropathy type 5 Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy Is a True Hereditary motor and sensory neuropathy Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy Is a True Hereditary motor and sensory neuropathy Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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