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Terminology chevron_right Concepts chevron_right 367489004

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Component

367489004

The component that hold information about this concept.

Fully Specified Name (FSN)

Infantile malignant osteopetrosis (disorder)

Shortest Term

Ivory bones

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

Infantile malignant osteopetrosis (disorder)

SCTID: 367489004, Primitive, Active

367489004|Infantile malignant osteopetrosis (disorder)|

vi Bệnh xương hóa đá ác tính ở trẻ nhũ nhi
en Autosomal recessive lethal osteopetrosis
en Autosomal recessive malignant osteopetrosis
en Congenital osteopetrosis
en Infantile malignant osteopetrosis
en Infantile malignant osteopetrosis (disorder)
en Marble bone disease

Expression

367489004 |Infantile malignant osteopetrosis (disorder)|
 <<< 1926006 |Osteopetrosis (disorder)| + 
85995004 |Autosomal recessive 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
563291000003114 - bệnh xương hóa đá ác tính ở trẻ nhũ nhi (vi) View
563291000003114	vi	Synonym (core metadata concept)	bệnh xương hóa đá ác tính ở trẻ nhũ nhi	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1785236014 - Albers-Schönberg disease (en) View
1785236014	en	Synonym (core metadata concept)	Albers-Schönberg disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1228703011 - Albers-Schonberg syndrome (en) View
1228703011	en	Synonym (core metadata concept)	Albers-Schonberg syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1228700014 - Autosomal recessive lethal osteopetrosis (en) View
1228700014	en	Synonym (core metadata concept)	Autosomal recessive lethal osteopetrosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3437513010 - Autosomal recessive malignant osteopetrosis (en) View
3437513010	en	Synonym (core metadata concept)	Autosomal recessive malignant osteopetrosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1228699013 - Congenital osteopetrosis (en) View
1228699013	en	Synonym (core metadata concept)	Congenital osteopetrosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
492384014 - Infantile malignant osteopetrosis (en) View
492384014	en	Synonym (core metadata concept)	Infantile malignant osteopetrosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
776595019 - Infantile malignant osteopetrosis (disorder) (en) View
776595019	en	Fully specified name (core metadata concept)	Infantile malignant osteopetrosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
492387019 - Ivory bones (en) View
492387019	en	Synonym (core metadata concept)	Ivory bones	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
492386011 - Marble bone disease (en) View
492386011	en	Synonym (core metadata concept)	Marble bone disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1228702018 - Osteopetrosis - congenita type (en) View
1228702018	en	Synonym (core metadata concept)	Osteopetrosis - congenita type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
492389016 - Osteopetrosis generalisata (en) View
492389016	en	Synonym (core metadata concept)	Osteopetrosis generalisata	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1228698017 - Osteopetrosis - precocious type (en) View
1228698017	en	Synonym (core metadata concept)	Osteopetrosis - precocious type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1228701013 - Severe osteopetrosis (en) View
1228701013	en	Synonym (core metadata concept)	Severe osteopetrosis	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
492390013 - Albers-Schoenberg syndrome (en) View
492390013	en	Synonym (core metadata concept)	Albers-Schoenberg syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
492385010 - Albers-Sch?nberg disease (en) View
492385010	en	Synonym (core metadata concept)	Albers-Sch?nberg disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
492388012 - Albers-Scho@nberg syndrome (en) View
492388012	en	Synonym (core metadata concept)	Albers-Scho@nberg syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6873971029) - 367489004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11286459023) - 367489004 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286460029) - 367489004 -> 43857005 (363714003) View
363714003 \|Interprets (attribute)\|	43857005 \|Osteoclast turnover rate (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569238026) - 367489004 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (771915021) - 367489004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4981265028) - 367489004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981266027) - 367489004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4990789028) - 367489004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6144617027) - 367489004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6873970028) - 367489004 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527289026) - 367489004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527290024) - 367489004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6873969029) - 367489004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (771914020) - 367489004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3365847021) - 367489004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3365848027) - 367489004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1766061025) - 367489004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (213235027) - 367489004 -> 1926006 (116680003) View
116680003 \|Is a (attribute)\|	1926006 \|Osteopetrosis (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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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 (2ddef2bc-cb6d-53a4-b34e-12202af8de18) 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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