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763457000: X-linked Charcot-Marie-Tooth disease type 2 (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
3642515015 X-linked Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642516019 X-linked Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404074014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404075010 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642515015 X-linked Charcot-Marie-Tooth disease type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642516019 X-linked Charcot-Marie-Tooth disease type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3642517011 A rare genetic peripheral sensorimotor neuropathy with 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 has been reported in some individuals. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404074014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404075010 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3422101001000115 Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962341000172117 CMTX2 - Charcot-Marie-Tooth disease type 2, X-linked fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002121000172115 maladie de Charcot-Marie-Tooth liée à l'X type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962341000172117 CMTX2 - Charcot-Marie-Tooth disease type 2, X-linked fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002121000172115 maladie de Charcot-Marie-Tooth liée à l'X type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422101001000115 Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 2 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 2 (disorder) 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 2 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 2 (disorder) Finding site Peripheral nervous system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked Charcot-Marie-Tooth disease type 2 (disorder) 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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