dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 89454001

Production

add

Component

89454001

The component that hold information about this concept.

Fully Specified Name (FSN)

Shwachman syndrome (disorder)

Shortest Term

Shwachman syndrome

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

Shwachman syndrome (disorder)

SCTID: 89454001, Primitive, Active

89454001|Shwachman syndrome (disorder)|

vi Hội chứng shwachman
en Congenital lipomatosis of pancreas
en Metaphyseal dysplasia with malabsorption and neutropenia
en Shwachman syndrome (disorder)
en Metaphyseal chondrodysplasia, shwachman type
en Metaphyseal chondrodysplasia with pancreatic insufficiency and neutropenia
en Schwachman-bodian syndrome
en Schwachman-diamond syndrome
en Schwachmann-diamond syndrome
en Schwachman's syndrome
en Shwachman-diamond syndrome
en Shwachman's syndrome
en Shwachman syndrome

Expression

89454001 |Shwachman syndrome (disorder)|
 <<< 28681006 |Metaphyseal chondrodysplasia (disorder)| + 
37992001 |Pancreatic insufficiency (disorder)| + 
89655007 |Congenital neutropenia (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
414395005 |Hereditary white blood cell disorder (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 30630007 |Neutrophil count (procedure)| }
        { 363698007 |Finding site (attribute)| = 15776009 |Pancreatic structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (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)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
450691000003117 - hội chứng Shwachman (vi) View
450691000003117	vi	Synonym (core metadata concept)	hội chứng Shwachman	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
508519011 - Congenital lipomatosis of pancreas (en) View
508519011	en	Synonym (core metadata concept)	Congenital lipomatosis of pancreas	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
508513012 - Metaphyseal dysplasia with malabsorption and neutropenia (en) View
508513012	en	Synonym (core metadata concept)	Metaphyseal dysplasia with malabsorption and neutropenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
832351017 - Shwachman syndrome (disorder) (en) View
832351017	en	Fully specified name (core metadata concept)	Shwachman syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
508514018 - Metaphyseal chondrodysplasia, Shwachman type (en) View
508514018	en	Synonym (core metadata concept)	Metaphyseal chondrodysplasia, Shwachman type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
148319016 - Metaphyseal chondrodysplasia with pancreatic insufficiency and neutropenia (en) View
148319016	en	Synonym (core metadata concept)	Metaphyseal chondrodysplasia with pancreatic insufficiency and neutropenia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
148321014 - Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia (en) View
148321014	en	Synonym (core metadata concept)	Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
508517013 - Schwachman-Bodian syndrome (en) View
508517013	en	Synonym (core metadata concept)	Schwachman-Bodian syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
508516016 - Schwachman-Diamond syndrome (en) View
508516016	en	Synonym (core metadata concept)	Schwachman-Diamond syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
508520017 - Schwachmann-Diamond syndrome (en) View
508520017	en	Synonym (core metadata concept)	Schwachmann-Diamond syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
508515017 - Schwachman's syndrome (en) View
508515017	en	Synonym (core metadata concept)	Schwachman's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
148320010 - Shwachman-Diamond syndrome (en) View
148320010	en	Synonym (core metadata concept)	Shwachman-Diamond syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
508518015 - Shwachman's syndrome (en) View
508518015	en	Synonym (core metadata concept)	Shwachman's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
148318012 - Shwachman syndrome (en) View
148318012	en	Synonym (core metadata concept)	Shwachman syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15880827024) - 89454001 -> 42357009 (116680003) View
116680003 \|Is a (attribute)\|	42357009 \|Disorder of digestive system specific to fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13068910028) - 89454001 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280388027) - 89454001 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4992602024) - 89454001 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023669026) - 89454001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11170561025) - 89454001 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11538269027) - 89454001 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799106020) - 89454001 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4983479025) - 89454001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4992603025) - 89454001 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5001236022) - 89454001 -> 15776009 (363698007) View
363698007 \|Finding site (attribute)\|	15776009 \|Pancreatic structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5001238023) - 89454001 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5025028022) - 89454001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517709029) - 89454001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517710023) - 89454001 -> 15776009 (363698007) View
363698007 \|Finding site (attribute)\|	15776009 \|Pancreatic structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517711022) - 89454001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517712026) - 89454001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10719072020) - 89454001 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046225028) - 89454001 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1684873021) - 89454001 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2789266022) - 89454001 -> 165517008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	165517008 \|Neutropenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7545006026) - 89454001 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7545007024) - 89454001 -> 30630007 (363714003) View
363714003 \|Interprets (attribute)\|	30630007 \|Neutrophil count (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799108021) - 89454001 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (898897026) - 89454001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2739024029) - 89454001 -> 250271003 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250271003 \|White blood cell finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3219810029) - 89454001 -> 235977001 (116680003) View
116680003 \|Is a (attribute)\|	235977001 \|Congenital malformation of pancreas (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3524919021) - 89454001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3524920026) - 89454001 -> 49596003 (363698007) View
363698007 \|Finding site (attribute)\|	49596003 \|Digestive organ structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3524921027) - 89454001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3524922023) - 89454001 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3524923029) - 89454001 -> 15776009 (363698007) View
363698007 \|Finding site (attribute)\|	15776009 \|Pancreatic structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4983476021) - 89454001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799107027) - 89454001 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799109029) - 89454001 -> 414395005 (116680003) View
116680003 \|Is a (attribute)\|	414395005 \|Hereditary white blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (898893027) - 89454001 -> 15776009 (363698007) View
363698007 \|Finding site (attribute)\|	15776009 \|Pancreatic structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898896024) - 89454001 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1782319020) - 89454001 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3352293021) - 89454001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3487813025) - 89454001 -> 49596003 (363698007) View
363698007 \|Finding site (attribute)\|	49596003 \|Digestive organ structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294361029) - 89454001 -> 46842007 (116680003) View
116680003 \|Is a (attribute)\|	46842007 \|Congenital anomaly of pancreas (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294358025) - 89454001 -> 303011007 (116680003) View
116680003 \|Is a (attribute)\|	303011007 \|Neutropenic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2772501023) - 89454001 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2943041024) - 89454001 -> 89655007 (116680003) View
116680003 \|Is a (attribute)\|	89655007 \|Congenital neutropenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2739025028) - 89454001 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2490650026) - 89454001 -> 24827003 (116676008) View
116676008 \|Associated morphology (attribute)\|	24827003 \|White blood cell abnormality (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294360028) - 89454001 -> 40888008 (116680003) View
116680003 \|Is a (attribute)\|	40888008 \|Congenital anomaly of the hematopoietic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1782320025) - 89454001 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2271063023) - 89454001 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898892021) - 89454001 -> 49596003 (363698007) View
363698007 \|Finding site (attribute)\|	49596003 \|Digestive organ structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898895023) - 89454001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2047312027) - 89454001 -> 78626001 (116680003) View
116680003 \|Is a (attribute)\|	78626001 \|Congenital anomaly of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898891025) - 89454001 -> 52501007 (363698007) View
363698007 \|Finding site (attribute)\|	52501007 \|Leukocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898894022) - 89454001 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1782318028) - 89454001 -> 86762007 (363698007) View
363698007 \|Finding site (attribute)\|	86762007 \|Structure of digestive system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294362020) - 89454001 -> 312574001 (116680003) View
116680003 \|Is a (attribute)\|	312574001 \|Multisystem disorder s-t (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898890029) - 89454001 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (898898020) - 89454001 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (294357024) - 89454001 -> 28681006 (116680003) View
116680003 \|Is a (attribute)\|	28681006 \|Metaphyseal chondrodysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (294359022) - 89454001 -> 37992001 (116680003) View
116680003 \|Is a (attribute)\|	37992001 \|Pancreatic insufficiency (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
42357009 View
42357009	Disorder of digestive system specific to fetus or newborn (disorder)	Perinatal digestive system disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
414395005 View
414395005	Hereditary white blood cell disorder (disorder)	Hereditary white blood cell disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
28681006 View
28681006	Metaphyseal chondrodysplasia (disorder)	Metaphyseal dysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
37992001 View
37992001	Pancreatic insufficiency (disorder)	Suy tụy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
89655007 View
89655007	Congenital neutropenia (disorder)	Kostmann's syndrome	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363080007 View
363080007	Digestive system hereditary disorder (disorder)	Digestive system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine system	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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (3d1624cd-567b-545d-88a6-7ee5351a8002) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D61.0	TRUE	ALWAYS D61.0	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 (ce7c8c7d-bc88-5401-831d-79f2d9fd8b76) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	K86.8	TRUE	ALWAYS K86.8	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)\|

Terminology chevron_right Concepts chevron_right 89454001

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches