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763776004: Kelch like family member 9 related early-onset distal myopathy (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
3643803019 KLHL9-related early-onset distal myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643807018 Kelch like family member 9 related early-onset distal myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643808011 Kelch like family member 9 related early-onset distal myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404202015 KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404203013 KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterised by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643803019 KLHL9-related early-onset distal myopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643807018 Kelch like family member 9 related early-onset distal myopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643808011 Kelch like family member 9 related early-onset distal myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643806010 A rare genetic distal myopathy with characteristics of slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404202015 KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404203013 KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterised by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3411281001000117 KLHL9-abhängige distale Myopathie mit Beginn in der Kindheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5501501000241118 myopathie distale à début précoce dans le cadre d'une 'Kelch Like Family Member 9' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5501501000241118 myopathie distale à début précoce dans le cadre d'une 'Kelch Like Family Member 9' fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411281001000117 KLHL9-abhängige distale Myopathie mit Beginn in der Kindheit 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
KLHL9-related early-onset distal myopathy Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
KLHL9-related early-onset distal myopathy Is a Distal muscular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
KLHL9-related early-onset distal myopathy Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
KLHL9-related early-onset distal myopathy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
KLHL9-related early-onset distal myopathy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
KLHL9-related early-onset distal myopathy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
KLHL9-related early-onset distal myopathy Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL9-related early-onset distal myopathy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL9-related early-onset distal myopathy Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL9-related early-onset distal myopathy Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 1
KLHL9-related early-onset distal myopathy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
KLHL9-related early-onset distal myopathy Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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