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Terminology chevron_right Concepts chevron_right 1926006

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Component

1926006

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteopetrosis (disorder)

Shortest Term

Osteopetrosis

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

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

Summary

Osteopetrosis (disorder)

SCTID: 1926006, Defined, Active

1926006|Osteopetrosis (disorder)|

en Osteopetrosis
en Osteopetrosis (disorder)

Expression

1926006 |Osteopetrosis (disorder)|
 === 8447006 |Congenital anomaly of skeletal bone (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
128237006 |Chronic disease of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary 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
4322018 - Osteopetrosis (en) View
4322018	en	Synonym (core metadata concept)	Osteopetrosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
747194012 - Osteopetrosis (disorder) (en) View
747194012	en	Fully specified name (core metadata concept)	Osteopetrosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4323011 - Osteopetrosis, NOS (en) View
4323011	en	Synonym (core metadata concept)	Osteopetrosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069777021) - 1926006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286018023) - 1926006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286019026) - 1926006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286020021) - 1926006 -> 43857005 (363714003) View
363714003 \|Interprets (attribute)\|	43857005 \|Osteoclast turnover rate (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286021020) - 1926006 -> 128237006 (116680003) View
116680003 \|Is a (attribute)\|	128237006 \|Chronic disease of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575968021) - 1926006 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4979461029) - 1926006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979462020) - 1926006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989419027) - 1926006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5833061028) - 1926006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5833062024) - 1926006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525836022) - 1926006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525837029) - 1926006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (719099027) - 1926006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3444578029) - 1926006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3465465025) - 1926006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (719098024) - 1926006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1759233029) - 1926006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (178242028) - 1926006 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8447006 View
8447006	Congenital anomaly of skeletal bone (disorder)	Congenital skeletal anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128237006 View
128237006	Chronic disease of musculoskeletal system (disorder)	Chronic musculoskeletal disease	900000000000073002 \|Sufficiently defined by necessary conditions 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
1332382002 View
1332382002	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Commad syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1264041000 View
1264041000	Autosomal dominant osteopetrosis type 1 (disorder)	Autosomal dominant osteopetrosis type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
50108000 View
50108000	Osteochondrodysplasia with osteopetrosis (disorder)	Osteochondrodysplasia with osteopetrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
724226009 View
724226009	Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Infantile osteopetrosis with neuroaxonal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725050005 View
725050005	Autosomal dominant osteopetrosis type 2 (disorder)	Albers schonberg osteopetrosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720986005 View
720986005	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
449777000 View
449777000	Transient infantile osteopetrosis (disorder)	Transient osteopetrosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205503007 View
205503007	Osteopetrosis - delayed type (disorder)	Osteopetrosis - tarda type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254121000 View
254121000	Osteopetrosis - intermediate type (disorder)	Osteopetrosis - intermediate type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254122007 View
254122007	Osteopetrosis with renal tubular acidosis (disorder)	Carbonic anhydrase ii deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
367489004 View
367489004	Infantile malignant osteopetrosis (disorder)	Ivory bones	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (c5ef56a9-488d-5fd0-96cb-f56b717d2c9f) 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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