193225000: Hereditary progressive muscular dystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle (disorder)\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy

\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy

\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

297608012 Hereditary progressive muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

577087018 Hereditary progressive muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3257651000005110 hereditær progredierende muskeldystrofi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary progressive muscular dystrophy	Is a	Muscular dystrophy	true	Inferred relationship	Some
Hereditary progressive muscular dystrophy	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Hereditary progressive muscular dystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Hereditary progressive muscular dystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Hereditary progressive muscular dystrophy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Hereditary progressive muscular dystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hereditary progressive muscular dystrophy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hereditary progressive muscular dystrophy	Clinical course	Progressive	true	Inferred relationship	Some	2
Hereditary progressive muscular dystrophy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood.	Is a	False	Hereditary progressive muscular dystrophy	Inferred relationship	Some
A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.	Is a	False	Hereditary progressive muscular dystrophy	Inferred relationship	Some
Distal muscular dystrophy	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
Muscular dystrophy with predominantly proximal limb girdle distribution	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
Congenital hereditary muscular dystrophy	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
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.	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
Severe childhood autosomal recessive muscular dystrophy	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	False	Hereditary progressive muscular dystrophy	Inferred relationship	Some
Autosomal recessive Emery-Dreifuss muscular dystrophy	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
X-linked Emery-Dreifuss muscular dystrophy	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene.	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
Myotonic dystrophy (disorder)	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some
A progressive muscular dystrophy characterized by co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine, and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies, and a dystrophic pattern.	Is a	True	Hereditary progressive muscular dystrophy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
297608012	Hereditary progressive muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
577087018	Hereditary progressive muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3257651000005110	hereditær progredierende muskeldystrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)