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Terminology chevron_right Concepts chevron_right 773730002

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Component

773730002

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteopetrosis hypogammaglobulinemia syndrome (disorder)

Shortest Term

Autosomal recessive osteopetrosis type 7

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 hypogammaglobulinemia syndrome (disorder)

SCTID: 773730002, Primitive, Active

773730002|Osteopetrosis hypogammaglobulinemia syndrome (disorder)|

en Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia
en Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
en Autosomal recessive osteopetrosis type 7
en Osteopetrosis hypogammaglobulinaemia syndrome
en Osteopetrosis hypogammaglobulinemia syndrome
en Osteopetrosis hypogammaglobulinemia syndrome (disorder)

Expression

773730002 |Osteopetrosis hypogammaglobulinemia syndrome (disorder)|
 <<< 413834006 |Chronic disease of immune function (disorder)| + 
234556002 |Specific antibody deficiency (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
50108000 |Osteochondrodysplasia with osteopetrosis (disorder)| + 
413835007 |Chronic disease of immune structure (disorder)| + 
363138005 |Hereditary disorder of immune system (disorder)| + 
267460002 |Congenital hypogammaglobulinemia (finding)| + 
36138009 |Congenital immunodeficiency disease (disorder)| + 
254120004 |Dysplasia with increased bone density (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113192009 |Skeletal system structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune 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)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 250707004 |Globulin measurement (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 312681000 |Bone density scan (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3726019012 - Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia (en) View
3726019012	en	Synonym (core metadata concept)	Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3726018016 - Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia (en) View
3726018016	en	Synonym (core metadata concept)	Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3726016017 - Autosomal recessive osteopetrosis type 7 (en) View
3726016017	en	Synonym (core metadata concept)	Autosomal recessive osteopetrosis type 7	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3726021019 - Osteopetrosis hypogammaglobulinaemia syndrome (en) View
3726021019	en	Synonym (core metadata concept)	Osteopetrosis hypogammaglobulinaemia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3726020018 - Osteopetrosis hypogammaglobulinemia syndrome (en) View
3726020018	en	Synonym (core metadata concept)	Osteopetrosis hypogammaglobulinemia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3726017014 - Osteopetrosis hypogammaglobulinemia syndrome (disorder) (en) View
3726017014	en	Fully specified name (core metadata concept)	Osteopetrosis hypogammaglobulinemia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10621806022) - 773730002 -> 119250001 (116680003) View
116680003 \|Is a (attribute)\|	119250001 \|Hypogammaglobulinemia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15463078028) - 773730002 -> 267460002 (116680003) View
116680003 \|Is a (attribute)\|	267460002 \|Congenital hypogammaglobulinemia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651902028) - 773730002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621796022) - 773730002 -> 1926006 (116680003) View
116680003 \|Is a (attribute)\|	1926006 \|Osteopetrosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10621802024) - 773730002 -> 250707004 (363714003) View
363714003 \|Interprets (attribute)\|	250707004 \|Globulin measurement (procedure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621803025) - 773730002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10621805021) - 773730002 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10621809026) - 773730002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11172129025) - 773730002 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11286038024) - 773730002 -> 50108000 (116680003) View
116680003 \|Is a (attribute)\|	50108000 \|Osteochondrodysplasia with osteopetrosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286042022) - 773730002 -> 413835007 (116680003) View
116680003 \|Is a (attribute)\|	413835007 \|Chronic disease of immune structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11286047027) - 773730002 -> 413834006 (116680003) View
116680003 \|Is a (attribute)\|	413834006 \|Chronic disease of immune function (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577973025) - 773730002 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577974020) - 773730002 -> 43857005 (363714003) View
363714003 \|Interprets (attribute)\|	43857005 \|Osteoclast turnover rate (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577975021) - 773730002 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577976022) - 773730002 -> 312681000 (363714003) View
363714003 \|Interprets (attribute)\|	312681000 \|Bone density scan (procedure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577977029) - 773730002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577978023) - 773730002 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577979026) - 773730002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577980028) - 773730002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577981029) - 773730002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577982020) - 773730002 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11577983026) - 773730002 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11583053027) - 773730002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621797029) - 773730002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621798023) - 773730002 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621799026) - 773730002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621800027) - 773730002 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621801028) - 773730002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621807029) - 773730002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621808023) - 773730002 -> 254120004 (116680003) View
116680003 \|Is a (attribute)\|	254120004 \|Dysplasia with increased bone density (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621810020) - 773730002 -> 234556002 (116680003) View
116680003 \|Is a (attribute)\|	234556002 \|Specific antibody deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10621811024) - 773730002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
267460002 View
267460002	Congenital hypogammaglobulinemia (finding)	Congenital hypogammaglobulinemia	900000000000073002 \|Sufficiently defined by necessary conditions 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
254120004 View
254120004	Dysplasia with increased bone density (disorder)	Dysplasia with increased bone density	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
413834006 View
413834006	Chronic disease of immune function (disorder)	Chronic disease of immune function	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
413835007 View
413835007	Chronic disease of immune structure (disorder)	Chronic disease of immune structure	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	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
234556002 View
234556002	Specific antibody deficiency (disorder)	Functional antibody defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363138005 View
363138005	Hereditary disorder of immune system (disorder)	Hereditary disorder of immune 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 (17fcc814-9273-50a6-a14e-55a76e267c1e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D80.0	TRUE	ALWAYS D80.0	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)\|
ExtendedMap object (f6c61209-a8c1-564f-8b6e-f400d88e332f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.2	TRUE	ALWAYS Q78.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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