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715665006: Hereditary motor and sensory neuropathy Okinawa type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303343010 Hereditary motor and sensory neuropathy Okinawa type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303344016 Hereditary motor and sensory neuropathy Okinawa type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303345015 Hereditary motor and sensory neuropathy proximal type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401023017 Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401024011 Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterised by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303343010 Hereditary motor and sensory neuropathy Okinawa type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303344016 Hereditary motor and sensory neuropathy Okinawa type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303345015 Hereditary motor and sensory neuropathy proximal type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303345015 Hereditary motor and sensory neuropathy proximal type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303346019 An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303347011 An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidaemia, and diabetes mellitus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401023017 Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401024011 Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterised by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3426351001000117 Neuropathie, hereditäre motorisch-sensorische, Typ Okinawa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
937381000172117 neuropathie sensitivo-motrice héréditaire type Okinawa fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954891000172118 neuropathie sensitivo-motrice proximale familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
937381000172117 neuropathie sensitivo-motrice héréditaire type Okinawa fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954891000172118 neuropathie sensitivo-motrice proximale familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426351001000117 Neuropathie, hereditäre motorisch-sensorische, Typ Okinawa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary motor and sensory neuropathy Okinawa type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy Okinawa type (disorder) Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy Okinawa type (disorder) Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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