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Terminology chevron_right Concepts chevron_right 723512008

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Component

723512008

The component that hold information about this concept.

Fully Specified Name (FSN)

Revesz syndrome (disorder)

Shortest Term

Revesz 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

Revesz syndrome (disorder)

SCTID: 723512008, Primitive, Active

723512008|Revesz syndrome (disorder)|

en Dyskeratosis congenita with bilateral exudative retinopathy
en Retinopathy, anaemia, central nervous system anomalies syndrome
en Retinopathy, anemia, central nervous system anomalies syndrome
en Revesz debuse syndrome
en Revesz syndrome
en Revesz syndrome (disorder)

Expression

723512008 |Revesz syndrome (disorder)|
 <<< 28975000 |Constitutional aplastic anemia (disorder)| + 
29555009 |Retinal disorder (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
707273001 |Autosomal dominant dyskeratosis congenita (disorder)| + 
414395005 |Hereditary white blood cell disorder (disorder)| + 
234469001 |Inherited platelet disorder (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 441689006 |Measurement of total hemoglobin concentration (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 767002 |White blood cell count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 61928009 |Platelet count (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 14089001 |Red blood cell count (procedure)| }
        { 116676008 |Associated morphology (attribute)| = 45486003 |Aplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 14016003 |Bone marrow structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 2097009 |Dyskeratosis (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)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 74848003 |Hemostatic function (observable entity)| }
        { 42752001 |Due to (attribute)| = 18469004 |Decreased erythrocyte production (finding)| }
        { 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3424893017 - Dyskeratosis congenita with bilateral exudative retinopathy (en) View
3424893017	en	Synonym (core metadata concept)	Dyskeratosis congenita with bilateral exudative retinopathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3424895012 - Retinopathy, anaemia, central nervous system anomalies syndrome (en) View
3424895012	en	Synonym (core metadata concept)	Retinopathy, anaemia, central nervous system anomalies syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3424894011 - Retinopathy, anemia, central nervous system anomalies syndrome (en) View
3424894011	en	Synonym (core metadata concept)	Retinopathy, anemia, central nervous system anomalies syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3424896013 - Revesz DeBuse syndrome (en) View
3424896013	en	Synonym (core metadata concept)	Revesz DeBuse syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3424892010 - Revesz syndrome (en) View
3424892010	en	Synonym (core metadata concept)	Revesz syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3424891015 - Revesz syndrome (disorder) (en) View
3424891015	en	Fully specified name (core metadata concept)	Revesz syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11170425022) - 723512008 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11290763020) - 723512008 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11290764025) - 723512008 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12436941026) - 723512008 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12436942022) - 723512008 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12484879023) - 723512008 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091684028) - 723512008 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	11	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091685027) - 723512008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	11	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091686026) - 723512008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	11	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091687024) - 723512008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	11	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9338138029) - 723512008 -> 18469004 (42752001) View
42752001 \|Due to (attribute)\|	18469004 \|Decreased erythrocyte production (finding)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818253029) - 723512008 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818254024) - 723512008 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818255020) - 723512008 -> 14016003 (363698007) View
363698007 \|Finding site (attribute)\|	14016003 \|Bone marrow structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818256021) - 723512008 -> 2097009 (116676008) View
116676008 \|Associated morphology (attribute)\|	2097009 \|Dyskeratosis (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818260024) - 723512008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818261023) - 723512008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6820083026) - 723512008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6820084021) - 723512008 -> 2097009 (116676008) View
116676008 \|Associated morphology (attribute)\|	2097009 \|Dyskeratosis (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6823148029) - 723512008 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6836813021) - 723512008 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6836814026) - 723512008 -> 14016003 (363698007) View
363698007 \|Finding site (attribute)\|	14016003 \|Bone marrow structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532361027) - 723512008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532363029) - 723512008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596280027) - 723512008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818249026) - 723512008 -> 414393003 (116680003) View
116680003 \|Is a (attribute)\|	414393003 \|Hereditary disorder of cellular element of blood (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818251027) - 723512008 -> 50820005 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	50820005 \|Cytopenia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6823147023) - 723512008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9338127029) - 723512008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9338131024) - 723512008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9338133022) - 723512008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9338135026) - 723512008 -> 414395005 (116680003) View
116680003 \|Is a (attribute)\|	414395005 \|Hereditary white blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9338136025) - 723512008 -> 234469001 (116680003) View
116680003 \|Is a (attribute)\|	234469001 \|Inherited platelet disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9341471028) - 723512008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9343915026) - 723512008 -> 767002 (363714003) View
363714003 \|Interprets (attribute)\|	767002 \|White blood cell count (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9347159021) - 723512008 -> 61928009 (363714003) View
363714003 \|Interprets (attribute)\|	61928009 \|Platelet count (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9349991027) - 723512008 -> 441689006 (363714003) View
363714003 \|Interprets (attribute)\|	441689006 \|Measurement of total hemoglobin concentration (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9353110028) - 723512008 -> 14089001 (363714003) View
363714003 \|Interprets (attribute)\|	14089001 \|Red blood cell count (procedure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818246022) - 723512008 -> 28975000 (116680003) View
116680003 \|Is a (attribute)\|	28975000 \|Constitutional aplastic anemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818247029) - 723512008 -> 29555009 (116680003) View
116680003 \|Is a (attribute)\|	29555009 \|Retinal disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818248023) - 723512008 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818250026) - 723512008 -> 707273001 (116680003) View
116680003 \|Is a (attribute)\|	707273001 \|Autosomal dominant dyskeratosis congenita (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818252023) - 723512008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818257028) - 723512008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818258022) - 723512008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
707273001 View
707273001	Autosomal dominant dyskeratosis congenita (disorder)	Autosomal dominant dyskeratosis congenita	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
28975000 View
28975000	Constitutional aplastic anemia (disorder)	Congenital aplastic anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
234469001 View
234469001	Inherited platelet disorder (disorder)	Hereditary thrombocytopathy	900000000000073002 \|Sufficiently defined by necessary conditions 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
29555009 View
29555009	Retinal disorder (disorder)	Retinopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (2f39b8d6-ab9b-518c-a3fc-6825e3afc9ff) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G93.8	TRUE	ALWAYS G93.8	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)\|
ExtendedMap object (4b79ec1a-dfb2-57d7-83a3-cf4ca4ed0598) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H35.0	TRUE	ALWAYS H35.0	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 (86affb85-19ec-5e59-9dd8-adc1a02876d7) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D61.9	TRUE	ALWAYS D61.9	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 (b6258099-21e6-56e6-a030-7b53f7901ad5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8 \| 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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