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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
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 Only initial character case insensitive (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
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
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
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 Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Finding site Peripheral nervous system structure false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Finding site Nerve structure false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Is a Neuropathy false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Is a Hereditary motor and sensory neuropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Is a Neuropathy false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Is a X-linked hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hereditary motor and sensory neuropathy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked hereditary motor and sensory neuropathy 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 Charcot-Marie-Tooth disease type 6 (disorder) Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 4 Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 2 (disorder) Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 3 Is a True X-linked hereditary motor and sensory neuropathy Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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