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Terminology chevron_right Concepts chevron_right 722231005

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Component

722231005

The component that hold information about this concept.

Fully Specified Name (FSN)

Perlman syndrome (disorder)

Shortest Term

Perlman 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

Perlman syndrome (disorder)

SCTID: 722231005, Primitive, Active

722231005|Perlman syndrome (disorder)|

en Perlman syndrome
en Perlman syndrome (disorder)

Expression

722231005 |Perlman syndrome (disorder)|
 <<< 48637007 |Multiple malformation syndrome with early overgrowth (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
309088003 |Renal mass (finding)| + 
399960008 |Congenital hamartoma (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
367591000119105 |Hereditary nephropathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
79131000119100 |Kidney lesion (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 51398009 |Hamartoma (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3331273014 - Perlman syndrome (en) View
3331273014	en	Synonym (core metadata concept)	Perlman syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3331272016 - Perlman syndrome (disorder) (en) View
3331272016	en	Fully specified name (core metadata concept)	Perlman syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15230342021) - 722231005 -> 79131000119100 (116680003) View
116680003 \|Is a (attribute)\|	79131000119100 \|Kidney lesion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791294023) - 722231005 -> 44513007 (116680003) View
116680003 \|Is a (attribute)\|	44513007 \|Congenital anomaly of the kidney (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529065022) - 722231005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069375027) - 722231005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791302029) - 722231005 -> 51398009 (116676008) View
116676008 \|Associated morphology (attribute)\|	51398009 \|Hamartoma (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791304028) - 722231005 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791306026) - 722231005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794346022) - 722231005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794347029) - 722231005 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794348023) - 722231005 -> 51398009 (116676008) View
116676008 \|Associated morphology (attribute)\|	51398009 \|Hamartoma (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6794349026) - 722231005 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529063026) - 722231005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529064021) - 722231005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539420025) - 722231005 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539421026) - 722231005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791295024) - 722231005 -> 48637007 (116680003) View
116680003 \|Is a (attribute)\|	48637007 \|Multiple malformation syndrome with early overgrowth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791296020) - 722231005 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791297027) - 722231005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791298021) - 722231005 -> 309088003 (116680003) View
116680003 \|Is a (attribute)\|	309088003 \|Renal mass (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791299029) - 722231005 -> 399960008 (116680003) View
116680003 \|Is a (attribute)\|	399960008 \|Congenital hamartoma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791300021) - 722231005 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791301020) - 722231005 -> 367591000119105 (116680003) View
116680003 \|Is a (attribute)\|	367591000119105 \|Hereditary nephropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791303023) - 722231005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	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
79131000119100 View
79131000119100	Kidney lesion (disorder)	Kidney lesion	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
367591000119105 View
367591000119105	Hereditary nephropathy (disorder)	Hereditary nephropathy	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
309088003 View
309088003	Renal mass (finding)	Renal mass	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
399960008 View
399960008	Congenital hamartoma (disorder)	Hamartomatosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
48637007 View
48637007	Multiple malformation syndrome with early overgrowth (disorder)	Multiple malformation syndrome with early overgrowth	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept 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 (bcf66a10-cf07-5901-93e9-b01b473fe13e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.3	TRUE	ALWAYS Q87.3 \| 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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