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Terminology chevron_right Concepts chevron_right 254122007

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Component

254122007

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteopetrosis with renal tubular acidosis (disorder)

Shortest Term

Carbonic anhydrase ii 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

Osteopetrosis with renal tubular acidosis (disorder)

SCTID: 254122007, Primitive, Active

254122007|Osteopetrosis with renal tubular acidosis (disorder)|

en Osteopetrosis with renal tubular acidosis
en Osteopetrosis with renal tubular acidosis (disorder)
en Ca2 - osteopetrosis with renal tubular acidosis
en Carbonic anhydrase ii deficiency

Expression

254122007 |Osteopetrosis with renal tubular acidosis (disorder)|
 <<< 237879001 |Disorder of phosphate, calcium and vitamin d metabolism (disorder)| + 
1926006 |Osteopetrosis (disorder)| + 
50279003 |Metabolic bone disease (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 43857005 |Osteoclast turnover rate (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
378289017 - Osteopetrosis with renal tubular acidosis (en) View
378289017	en	Synonym (core metadata concept)	Osteopetrosis with renal tubular acidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
644970016 - Osteopetrosis with renal tubular acidosis (disorder) (en) View
644970016	en	Fully specified name (core metadata concept)	Osteopetrosis with renal tubular acidosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
378288013 - CA2 - Osteopetrosis with renal tubular acidosis (en) View
378288013	en	Synonym (core metadata concept)	CA2 - Osteopetrosis with renal tubular acidosis	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
378287015 - Carbonic anhydrase II deficiency (en) View
378287015	en	Synonym (core metadata concept)	Carbonic anhydrase II deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11286544025) - 254122007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286545029) - 254122007 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286546028) - 254122007 -> 43857005 (363714003) View
363714003 \|Interprets (attribute)\|	43857005 \|Osteoclast turnover rate (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11574236028) - 254122007 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579633029) - 254122007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4977912026) - 254122007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4977913020) - 254122007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4988089020) - 254122007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6126802021) - 254122007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530079027) - 254122007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530080029) - 254122007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579634024) - 254122007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3404579023) - 254122007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3404580021) - 254122007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736371027) - 254122007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1955294025) - 254122007 -> 50279003 (116680003) View
116680003 \|Is a (attribute)\|	50279003 \|Metabolic bone disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (74222026) - 254122007 -> 1926006 (116680003) View
116680003 \|Is a (attribute)\|	1926006 \|Osteopetrosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (74223020) - 254122007 -> 237879001 (116680003) View
116680003 \|Is a (attribute)\|	237879001 \|Disorder of phosphate, calcium and vitamin d metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1926006 View
1926006	Osteopetrosis (disorder)	Osteopetrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
50279003 View
50279003	Metabolic bone disease (disorder)	Metabolic bone disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128289001 View
128289001	Chronic metabolic disorder (disorder)	Chronic metabolic disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237879001 View
237879001	Disorder of phosphate, calcium and vitamin d metabolism (disorder)	Disorder of phosphate, calcium and vitamin d metabolism	900000000000074008 \|Necessary but not sufficient concept 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 (0a3004d8-2c39-52fe-ba43-a70585464eb8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.2	TRUE	ALWAYS Q78.2	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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