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 (disorder)\Muscle adenosine monophosphate deaminase deficiency (disorder)

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Muscle adenosine monophosphate deaminase deficiency (disorder)

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

\Hereditary disorder of musculoskeletal system\Muscle adenosine monophosphate deaminase deficiency (disorder)

\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Muscle adenosine monophosphate deaminase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Muscle adenosine monophosphate deaminase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Muscle adenosine monophosphate deaminase deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Muscle adenosine monophosphate deaminase deficiency (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Muscle adenosine monophosphate deaminase deficiency (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Muscle adenosine monophosphate deaminase deficiency (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Muscle adenosine monophosphate deaminase deficiency (disorder)
\Disease\Metabolic disease\Disorder of purine and pyrimidine metabolism\Disorder of purine metabolism (disorder)\Muscle adenosine monophosphate deaminase deficiency (disorder)
\Disease\Metabolic disease\Enzymopathy\Muscle adenosine monophosphate deaminase deficiency (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Muscle adenosine monophosphate deaminase deficiency (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
Muscle adenosine monophosphate deaminase deficiency (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder)	Is a	Disorder of purine metabolism (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder)	Is a	Metabolic myopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder)	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder)	Is a	Congenital anomaly of skeletal muscle (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Muscle adenosine monophosphate deaminase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)

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
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
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	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	Only initial character 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	Only initial character 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
834284019	Muscle AMP deaminase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2972643013	Muscle adenosine monophosphate deaminase deficiency (disorder)	en	Fully specified name	Active	Only initial character 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	Only initial character 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
4419131000241117	déficit musculaire en adénosine monophosphate désaminase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4419131000241117	déficit musculaire en adénosine monophosphate désaminase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module