9105005: Muscle adenosine monophosphate deaminase deficiency (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Muscle AMP deaminase deficiency

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Muscle AMP deaminase deficiency

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

\Hereditary disorder of musculoskeletal system\Muscle AMP deaminase deficiency

\Disorder of skeletal muscle\Metabolic myopathy\Muscle AMP deaminase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle AMP deaminase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Muscle AMP deaminase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Muscle AMP deaminase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Muscle AMP deaminase deficiency
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Muscle AMP deaminase deficiency
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Muscle AMP deaminase deficiency
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism\Muscle AMP deaminase deficiency
\Disease\Metabolic disease\Enzymopathy\Muscle AMP deaminase deficiency
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Muscle AMP deaminase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

16029017 Muscle AMP deaminase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

16030010 Myoadenylate deaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

16031014 Myoadenylate deaminase deficiency myopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

16032019 Muscle adenylate deaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2972643013 Muscle adenosine monophosphate deaminase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2972692019 Muscle adenosine monophosphate deaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

790521000052116 brist på myoadenylatdeaminas sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Muscle AMP deaminase deficiency	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	Disorder of purine metabolism	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	Metabolic myopathy	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Muscle AMP deaminase deficiency	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Muscle AMP deaminase deficiency	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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Reference Sets