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1179295004: 'blood vessel epicardial substance'-gerelateerde 'limb-girdle'-spierdystrofie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4650594010 Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650596012 Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650597015 Limb girdle muscular dystrophy 2X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4650600019 BVES-related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650601015 Blood vessel epicardial substance related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4650602010 BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
13242061000146111 'blood vessel epicardial substance'-gerelateerde 'limb-girdle'-spierdystrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242071000146117 LGMD2X nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242081000146115 autosomaal recessieve gordeldystrofie type 2X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242091000146118 'limb-girdle muscular dystrophy' 2X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242101000146113 BVES-gerelateerde 'limb-girdle'-spierdystrofie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242111000146110 'blood vessel epicardial substance'-gerelateerde 'limb-girdle'-spierdystrofie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242121000146117 autosomaal recessief syndroom van 'limb-girdle'-spierdystrofie en hartritmestoornis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4650595011 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4650599017 A rare subtype of autosomal recessive limb girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Is a Chronic heart disease true Inferred relationship Some
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Is a Autosomal recessive muscular dystrophy with limb girdle distribution true Inferred relationship Some
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Is a Cardiac arrhythmia associated with genetic disorder (disorder) true Inferred relationship Some
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Finding site Heart structure false Inferred relationship Some 3
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Finding site Cardiac conducting system structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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