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Terminology chevron_right Concepts chevron_right 721083007

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Component

721083007

The component that hold information about this concept.

Fully Specified Name (FSN)

Lymphedema hypoparathyroidism syndrome (disorder)

Shortest Term

Dahlberg 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

Lymphedema hypoparathyroidism syndrome (disorder)

SCTID: 721083007, Primitive, Active

721083007|Lymphedema hypoparathyroidism syndrome (disorder)|

en Lymphedema hypoparathyroidism syndrome
en Lymphedema hypoparathyroidism syndrome (disorder)
en Lymphoedema hypoparathyroidism syndrome
en Dahlberg borer newcomer syndrome
en Dahlberg syndrome

Expression

721083007 |Lymphedema hypoparathyroidism syndrome (disorder)|
 <<< 36976004 |Hypoparathyroidism (disorder)| + 
60475009 |Congenital anomaly of limb (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
254199006 |Hereditary lymphedema (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
8654005 |Ectodermal dysplasia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 30213001 |Lymphatic edema (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 66019005 |Limb 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)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 60877009 |Hormone secretion, function (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 63206006 |Ectoderm structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 111002 |Parathyroid structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3323396012 - Lymphedema hypoparathyroidism syndrome (en) View
3323396012	en	Synonym (core metadata concept)	Lymphedema hypoparathyroidism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3323395011 - Lymphedema hypoparathyroidism syndrome (disorder) (en) View
3323395011	en	Fully specified name (core metadata concept)	Lymphedema hypoparathyroidism syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3323397015 - Lymphoedema hypoparathyroidism syndrome (en) View
3323397015	en	Synonym (core metadata concept)	Lymphoedema hypoparathyroidism syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3323398013 - Dahlberg Borer Newcomer syndrome (en) View
3323398013	en	Synonym (core metadata concept)	Dahlberg Borer Newcomer syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3323399017 - Dahlberg syndrome (en) View
3323399017	en	Synonym (core metadata concept)	Dahlberg syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069298022) - 721083007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15143810020) - 721083007 -> 60475009 (116680003) View
116680003 \|Is a (attribute)\|	60475009 \|Congenital anomaly of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15143811024) - 721083007 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15143812028) - 721083007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596215029) - 721083007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11227030026) - 721083007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754223028) - 721083007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754225024) - 721083007 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754226020) - 721083007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754227027) - 721083007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754228021) - 721083007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7114718020) - 721083007 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527347021) - 721083007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527348027) - 721083007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527349024) - 721083007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527352027) - 721083007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546378021) - 721083007 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596216028) - 721083007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596217021) - 721083007 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596218027) - 721083007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754222022) - 721083007 -> 42497006 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	42497006 \|Decreased hormone secretion (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9302930027) - 721083007 -> 60877009 (363714003) View
363714003 \|Interprets (attribute)\|	60877009 \|Hormone secretion, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9302931028) - 721083007 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754214026) - 721083007 -> 30213001 (116676008) View
116676008 \|Associated morphology (attribute)\|	30213001 \|Lymphatic edema (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754221026) - 721083007 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112429024) - 721083007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7112432022) - 721083007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7114717026) - 721083007 -> 30213001 (116676008) View
116676008 \|Associated morphology (attribute)\|	30213001 \|Lymphatic edema (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754215025) - 721083007 -> 8654005 (116680003) View
116680003 \|Is a (attribute)\|	8654005 \|Ectodermal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754216029) - 721083007 -> 36976004 (116680003) View
116680003 \|Is a (attribute)\|	36976004 \|Hypoparathyroidism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754217022) - 721083007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754218028) - 721083007 -> 254199006 (116680003) View
116680003 \|Is a (attribute)\|	254199006 \|Hereditary lymphedema (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754219020) - 721083007 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754220025) - 721083007 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754224023) - 721083007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
8654005 View
8654005	Ectodermal dysplasia (disorder)	Ectodermal dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254199006 View
254199006	Hereditary lymphedema (disorder)	Primary lymphedema	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
36976004 View
36976004	Hypoparathyroidism (disorder)	Deficiency of pth	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
60475009 View
60475009	Congenital anomaly of limb (disorder)	Congenital anomaly of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept 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
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	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 (70d97658-4530-5029-a77f-27778b391943) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.4	TRUE	ALWAYS Q82.4 \| 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)\|
ExtendedMap object (a95948d2-e9f1-5cdd-867f-3a708153b7d2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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