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230552007: X-linked hereditary motor and sensory neuropathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
345458012 X-linked hereditary motor and sensory neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
618376017 X-linked hereditary motor and sensory neuropathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642105016 X-linked Charcot-Marie-Tooth disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4959861000241111 neuropathie sensitivo-motrice héréditaire liée à X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391861001000115 X-chromosomale Charcot-Marie-Tooth-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked hereditary motor and sensory neuropathy Is a Hereditary motor and sensory neuropathy false Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Finding site Peripheral nervous system structure false Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Finding site Nerve structure false Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a Neuropathy false Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a Neuropathy (disorder) false Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a Congenital disease true Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Is a X-linked hereditary disease true Inferred relationship Some
X-linked hereditary motor and sensory neuropathy Occurrence Congenital true Inferred relationship Some 1
X-linked hereditary motor and sensory neuropathy Finding site Peripheral nervous system structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability have been reported in some individuals. Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Some
A rare form of X-linked Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by infancy- to childhood-onset of progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, bilateral, profound, prelingual sensorineural hearing loss and progressive optic neuropathy. Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Some

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