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Terminology chevron_right Concepts chevron_right 9105005

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Component

9105005

The component that hold information about this concept.

Fully Specified Name (FSN)

Muscle adenosine monophosphate deaminase deficiency (disorder)

Shortest Term

Muscle amp deaminase deficiency

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Muscle adenosine monophosphate deaminase deficiency (disorder)

SCTID: 9105005, Primitive, Active

9105005|Muscle adenosine monophosphate deaminase deficiency (disorder)|

en Muscle adenosine monophosphate deaminase deficiency
en Muscle adenosine monophosphate deaminase deficiency (disorder)
en Muscle adenylate deaminase deficiency
en Myoadenylate deaminase deficiency
en Myoadenylate deaminase deficiency myopathy
en Muscle amp deaminase deficiency

Expression

9105005 |Muscle adenosine monophosphate deaminase deficiency (disorder)|
 <<< 363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
32612005 |Disorder of purine metabolism (disorder)| + 
26111005 |Metabolic myopathy (disorder)| + 
78548001 |Enzymopathy (disorder)| : 
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2972692019 - Muscle adenosine monophosphate deaminase deficiency (en) View
2972692019	en	Synonym (core metadata concept)	Muscle adenosine monophosphate deaminase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2972643013 - Muscle adenosine monophosphate deaminase deficiency (disorder) (en) View
2972643013	en	Fully specified name (core metadata concept)	Muscle adenosine monophosphate deaminase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
16032019 - Muscle adenylate deaminase deficiency (en) View
16032019	en	Synonym (core metadata concept)	Muscle adenylate deaminase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
16030010 - Myoadenylate deaminase deficiency (en) View
16030010	en	Synonym (core metadata concept)	Myoadenylate deaminase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
16031014 - Myoadenylate deaminase deficiency myopathy (en) View
16031014	en	Synonym (core metadata concept)	Myoadenylate deaminase deficiency myopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
834284019 - Muscle AMP deaminase deficiency (disorder) (en) View
834284019	en	Fully specified name (core metadata concept)	Muscle AMP deaminase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
16029017 - Muscle AMP deaminase deficiency (en) View
16029017	en	Synonym (core metadata concept)	Muscle AMP deaminase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (903243020) - 9105005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (903244025) - 9105005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (297140023) - 9105005 -> 89886004 (116680003) View
116680003 \|Is a (attribute)\|	89886004 \|Congenital anomaly of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (297135026) - 9105005 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (297136025) - 9105005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (297137023) - 9105005 -> 32612005 (116680003) View
116680003 \|Is a (attribute)\|	32612005 \|Disorder of purine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (297138029) - 9105005 -> 26111005 (116680003) View
116680003 \|Is a (attribute)\|	26111005 \|Metabolic myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (297139021) - 9105005 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
26111005 View
26111005	Metabolic myopathy (disorder)	Metabolic myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
32612005 View
32612005	Disorder of purine metabolism (disorder)	Disorder of purine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (98d6c8db-d37e-525d-8016-b36a5ccc0029) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E79.9	TRUE	ALWAYS E79.9	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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