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784352007: X-linked scapuloperoneal muscular dystrophy (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3763742019 X-linked scapuloperoneal muscular dystrophy (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3763743012 X-linked scapuloperoneal muscular dystrophy en Synonym Active Case sensitive SNOMED CT core
3763744018 X-linked scapuloperoneal syndrome en Synonym Active Case sensitive SNOMED CT core
3763745017 A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked scapuloperoneal muscular dystrophy Is a Hereditary progressive muscular dystrophy true Inferred relationship Some
X-linked scapuloperoneal muscular dystrophy Is a Scapuloperoneal muscular dystrophy true Inferred relationship Some
X-linked scapuloperoneal muscular dystrophy Finding site Skeletal muscle structure true Inferred relationship Some 1
X-linked scapuloperoneal muscular dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
X-linked scapuloperoneal muscular dystrophy Pathological process Pathological developmental process true Inferred relationship Some 1
X-linked scapuloperoneal muscular dystrophy Is a X-linked hereditary disease false Inferred relationship Some
X-linked scapuloperoneal muscular dystrophy Clinical course Progressive true Inferred relationship Some 2
X-linked scapuloperoneal muscular dystrophy Is a X-linked dominant hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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