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398100001: Hereditary motor and sensory neuropathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
1777664015 Hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786097018 Hereditary sensory and motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786098011 Hereditary sensory-motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786103013 Hereditary sensorimotor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3007425011 CMT - Charcot-Marie-Tooth disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244173019 HMSN - hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244174013 HSMN - hereditary sensory and motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1766019012 Hereditary motor and sensory neuropathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1766019012 Hereditary motor and sensory neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1777664015 Hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1777664015 Hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786097018 Hereditary sensory and motor neuropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786097018 Hereditary sensory and motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786098011 Hereditary sensory-motor neuropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786098011 Hereditary sensory-motor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786099015 HSMN en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786100011 HMSN en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786101010 HMSN - Hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786102015 HSMN - Hereditary sensory and motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786103013 Hereditary sensorimotor neuropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786103013 Hereditary sensorimotor neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3007425011 CMT - Charcot-Marie-Tooth disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244173019 HMSN - hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5244174013 HSMN - hereditary sensory and motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
344951000172110 neuropathie héréditaire motrice et sensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
538831000172119 neuropathie héréditaire sensitivomotrice fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
344951000172110 neuropathie héréditaire motrice et sensorielle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
538831000172119 neuropathie héréditaire sensitivomotrice fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

107 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary motor and sensory neuropathy (disorder) Is a Hereditary peripheral neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy (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
X-linked hereditary motor and sensory neuropathy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Déjérine-Sottas disease Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory neuropathy (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy with optic atrophy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy with retinitis pigmentosa (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Phytanic acid storage disease (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensory-motor neuropathy, type V Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peroneal muscular atrophy NOS Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Roussy-Levy syndrome Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Andermann syndrome Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Family history of Charcot-Marie-Tooth disease Associated finding False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Charcot-Marie-Tooth disease, type II (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, type I (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease type 4 Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thermosensitive neuropathy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy Okinawa type (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Is a False Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant slowed nerve conduction velocity (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy type 5 (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary motor and sensory neuropathy with acrodystrophy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease with characteristics of debilitating neuropathic pain associated with mild distal symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting or throbbing pain and intermittent paresthesia in toes, heels and ankles. Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Roussy-Lévy syndrome Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Family history of Charcot-Marie-Tooth disease Associated finding True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital axonal neuropathy with encephalopathy Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. Is a True Hereditary motor and sensory neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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