129565002: Disorder of skeletal AND/OR smooth muscle (disorder)

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

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

\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of skeletal AND/OR smooth muscle (disorder)	Is a	sygdom specificeret iht. lokalisation	false	Inferred relationship	Some
Disorder of skeletal AND/OR smooth muscle (disorder)	Finding site	Skeletal and/or smooth muscle structure (body structure)	true	Inferred relationship	Some	1
Disorder of skeletal AND/OR smooth muscle (disorder)	Is a	Muscle finding	true	Inferred relationship	Some
Disorder of skeletal AND/OR smooth muscle (disorder)	Is a	Disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myoclonic disorder	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Disorder of smooth muscle	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Muscular ossification	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Disorder of skeletal muscle	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Neoplasm of uncertain behavior of muscle	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Muscle abscess	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Neoplasm of muscle	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Malignant neoplasm of muscle (disorder)	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Inflammatorisk muskelsygdom	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Degenerative disorder of muscle	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Injury of muscle	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Infectious disorder of muscle	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Rupture of muscle	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Pylorospasm	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Gastric spasm	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Enterospasm	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Irritable bowel syndrome	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Recruitment	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Refractory infantile spasms (disorder)	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Diffuse spasm of esophagus	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Colonospasm	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Anal spasm	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Anaerobic myonecrosis	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Critical illness myopathy (disorder)	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Calcification of muscle (disorder)	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Hamartoma of muscle (disorder)	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Congenital hypertonia	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Myopathy co-occurrent and due to polymyositis	Due to	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Myopathy due to magnesium deficiency (disorder)	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Refractory infantile spasms co-occurrent with status epilepticus	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Ischemia of muscle due to traumatic injury (disorder)	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Fibromyalgia	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
A rare neurologic disease with characteristics of excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia.	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
A rare X-linked syndromic intellectual disability disease with characteristics of neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. There is the disease is caused by mutation in the ARHGEF9 gene on chromosome Xq22.1.	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Foreign body granuloma of muscle	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Haemangioma of muscle	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Aicardi's syndrome	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Dissociative neurological symptom disorder co-occurrent with facial spasm	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Dissociative neurological symptom disorder co-occurrent with myoclonus (disorder)	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Myopathy due to chronic alcoholism (disorder)	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Generalized congenital lipodystrophy with myopathy (disorder)	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Nodule in muscle	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Disorder of muscle due to paraneoplastic syndrome (disorder)	Is a	False	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Secondary myopathy	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Disorder of upper esophageal sphincter	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Acquired esophagocele	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Healed tear of anal sphincter	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some
Complete rectal prolapse with displacement of anal sphincter	Is a	True	Disorder of skeletal AND/OR smooth muscle (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
208350016	Disorder of muscle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
733713010	Disorder of skeletal AND/OR smooth muscle (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2550639015	Myopathic disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2550640018	Myopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3084247015	Disorder of skeletal AND/OR smooth muscle	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2084721000005111	Muskelsygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)