63135006: Amyotonia congenita (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Amyotonia congenita (disorder)

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Amyotonia congenita (disorder)

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Amyotonia congenita (disorder)

\Disorder of skeletal muscle\Myoneural disorder\Amyotonia congenita (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Amyotonia congenita (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Amyotonia congenita (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Amyotonia congenita (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Amyotonia congenita (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Amyotonia congenita (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Amyotonia congenita (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Amyotonia congenita (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Amyotonia congenita (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Myoneural disorder\Amyotonia congenita (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Amyotonia congenita (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Amyotonia congenita (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Amyotonia congenita (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Amyotonia congenita (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Amyotonia congenita (disorder)

Status: current, Not 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
Amyotonia congenita (disorder)	Is a	Disorder of neuromuscular transmission	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Is a	Myopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Finding site	Peripheral nervous system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Finding site	Neuromuscular junction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Is a	Myoneural disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyotonia congenita (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amyotonia congenita (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder)	Finding site	Neuromuscular junction	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amyotonia congenita (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
104952014	Amyotonia congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104953016	Oppenheim's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
104954010	Congenital atonic pseudoparalysis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499491010	Oppenheim's amyotonia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
802385015	Amyotonia congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104952014	Amyotonia congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
104952014	Amyotonia congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104953016	Oppenheim's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
104954010	Congenital atonic pseudoparalysis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
104954010	Congenital atonic pseudoparalysis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
499491010	Oppenheim's amyotonia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
802385015	Amyotonia congenita (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
802385015	Amyotonia congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4596611000241115	amyotonie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4596611000241115	amyotonie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module