240059009: Congenital muscular dystrophy (disorder)

Status: retired, Not 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

359655015 Congenital muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

629150019 Congenital muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1456851000005117 Kongenit 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
Kongenit muskeldystrofi	Is a	Autosomal recessive muscular dystrophy with limb girdle distribution	false	Inferred relationship	Some
Kongenit muskeldystrofi	Is a	Congenital hereditary muscular dystrophy	false	Inferred relationship	Some
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Kongenit muskeldystrofi	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Kongenit muskeldystrofi	Occurrence	Congenital	false	Inferred relationship	Some
Kongenit muskeldystrofi	Associated morphology	Dystrophy	false	Inferred relationship	Some	1
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Kongenit muskeldystrofi	Occurrence	Congenital	false	Inferred relationship	Some	3
Kongenit muskeldystrofi	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Kongenit muskeldystrofi	Occurrence	Congenital	false	Inferred relationship	Some	4
Kongenit muskeldystrofi	Associated morphology	Dystrophy	false	Inferred relationship	Some	4
Kongenit muskeldystrofi	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	4
Kongenit muskeldystrofi	Is a	Muscular dystrophy with predominantly proximal limb girdle distribution	false	Inferred relationship	Some
Kongenit muskeldystrofi	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Kongenit muskeldystrofi	Occurrence	Congenital	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Western type of congenital muscular dystrophy	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
Ullrich congenital muscular dystrophy (disorder)	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
Eichsfeld type congenital muscular dystrophy	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
Walker-Warburg congenital muscular dystrophy	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
A rare congenital muscular dystrophy characterised by early onset of hypotonia, delayed motor development, and variably progressive generalised muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without ophthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22.	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some
A rare genetic congenital muscular dystrophy due to extracellular matrix protein anomaly. The disease has characteristics of early motor development delay and muscle weakness with mild elevation of serum creatine kinase that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. There is evidence this disease is caused by compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.	Is a	False	Kongenit muskeldystrofi	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
359655015	Congenital muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629150019	Congenital muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1456851000005117	Kongenit muskeldystrofi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)