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763458005: X-linked Charcot-Marie-Tooth disease type 3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3642518018 X-linked Charcot-Marie-Tooth disease type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642519014 X-linked Charcot-Marie-Tooth disease type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404076011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404077019 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterised 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 paraesthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642518018 X-linked Charcot-Marie-Tooth disease type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642519014 X-linked Charcot-Marie-Tooth disease type 3 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642520015 A rare genetic peripheral sensorimotor neuropathy with 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, pan sensory 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777450012 A rare genetic peripheral sensorimotor neuropathy with 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, pan sensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paraesthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404076011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404077019 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterised 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 paraesthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3384831001000110 Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
885231000172118 maladie de Charcot-Marie-Tooth liée à l'X type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1004091000172113 CMT3X - Charcot-Marie-Tooth disease type 3, X-linked fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
885231000172118 maladie de Charcot-Marie-Tooth liée à l'X type 3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1004091000172113 CMT3X - Charcot-Marie-Tooth disease type 3, X-linked fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384831001000110 Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 3 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
X-linked Charcot-Marie-Tooth disease type 3 Is a X-linked hereditary motor and sensory neuropathy true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 3 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 3 Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 3 Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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