63135006: Amyotonia congenita (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Amyotonia congenita

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Amyotonia congenita

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

\Hereditary disorder of musculoskeletal system\Amyotonia congenita

\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Amyotonia congenita

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Amyotonia congenita
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Amyotonia congenita
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Amyotonia congenita
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Amyotonia congenita
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Amyotonia congenita
\Disease\Disorder of body system\Disorder of nervous system\Neuropathy\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Amyotonia congenita
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Amyotonia congenita
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Combined disorder of muscle AND peripheral nerve\Amyotonia congenita
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Neuromuscular junction disorder\Disorder of neuromuscular transmission\Amyotonia congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Amyotonia congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Amyotonia congenita
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Amyotonia congenita
\Disease\Congenital disease\Amyotonia congenita
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Amyotonia congenita

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

104952014 Amyotonia congenita en Synonym Active Entire term case insensitive SNOMED CT core module

104953016 Oppenheim's disease en Synonym Active Entire term case sensitive SNOMED CT core module

104954010 Congenital atonic pseudoparalysis en Synonym Active Entire term case insensitive SNOMED CT core module

499491010 Oppenheim's amyotonia en Synonym Active Entire term case sensitive SNOMED CT core module

802385015 Amyotonia congenita (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Amyotonia congenita	Is a	Disorder of neuromuscular transmission	true	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Is a	Myopathy	false	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Finding site	Peripheral nervous system structure	false	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Finding site	Neuromuscular junction	false	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Is a	Combined disorder of muscle AND peripheral nerve	true	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Is a	Disorder of skeletal muscle	false	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Amyotonia congenita	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Amyotonia congenita	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Amyotonia congenita	Finding site	Neuromuscular junction	true	Inferred relationship	Existential restriction modifier	2
Amyotonia congenita	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
104952014	Amyotonia congenita	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
104953016	Oppenheim's disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
104954010	Congenital atonic pseudoparalysis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
499491010	Oppenheim's amyotonia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
802385015	Amyotonia congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module