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Terminology chevron_right Concepts chevron_right 770625006

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Component

770625006

The component that hold information about this concept.

Fully Specified Name (FSN)

Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)

Shortest Term

Roifman chitayat 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

Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)

SCTID: 770625006, Primitive, Active

770625006|Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)|

en Combined immunodeficiency with faciooculoskeletal anomalies syndrome
en Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)
en Roifman chitayat syndrome

Expression

770625006 |Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)|
 <<< 442459007 |Combined immunodeficiency disease (disorder)| + 
722990003 |Congenital atrophy of optic nerve (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
36138009 |Congenital immunodeficiency disease (disorder)| + 
363138005 |Hereditary disorder of immune system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| + 
95502000 |Congenital anomaly of optic nerve (disorder)| + 
95477007 |Congenital degeneration of nervous system (disorder)| + 
312942003 |Inherited optic neuropathy (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 13331008 |Atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 18234004 |Optic nerve 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)| }
        { 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)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3701684018 - Combined immunodeficiency with faciooculoskeletal anomalies syndrome (en) View
3701684018	en	Synonym (core metadata concept)	Combined immunodeficiency with faciooculoskeletal anomalies syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3701683012 - Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) (en) View
3701683012	en	Fully specified name (core metadata concept)	Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3701682019 - Roifman Chitayat syndrome (en) View
3701682019	en	Synonym (core metadata concept)	Roifman Chitayat syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069849021) - 770625006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617652029) - 770625006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9617658025) - 770625006 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12094897028) - 770625006 -> 95477007 (116680003) View
116680003 \|Is a (attribute)\|	95477007 \|Congenital degeneration of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12094898022) - 770625006 -> 312942003 (116680003) View
116680003 \|Is a (attribute)\|	312942003 \|Inherited optic neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12094899025) - 770625006 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11170371027) - 770625006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617647023) - 770625006 -> 442459007 (116680003) View
116680003 \|Is a (attribute)\|	442459007 \|Combined immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617648029) - 770625006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617649021) - 770625006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617651020) - 770625006 -> 722990003 (116680003) View
116680003 \|Is a (attribute)\|	722990003 \|Congenital atrophy of optic nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617653023) - 770625006 -> 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 (9617655027) - 770625006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617660028) - 770625006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617662020) - 770625006 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617663026) - 770625006 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617664021) - 770625006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617665022) - 770625006 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617666023) - 770625006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9620513025) - 770625006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9625157023) - 770625006 -> 13331008 (116676008) View
116676008 \|Associated morphology (attribute)\|	13331008 \|Atrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9625160027) - 770625006 -> 18234004 (363698007) View
363698007 \|Finding site (attribute)\|	18234004 \|Optic nerve structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530666024) - 770625006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530667026) - 770625006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530668020) - 770625006 -> 95502000 (116680003) View
116680003 \|Is a (attribute)\|	95502000 \|Congenital anomaly of optic nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530669028) - 770625006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530670027) - 770625006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539595028) - 770625006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	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
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
312942003 View
312942003	Inherited optic neuropathy (disorder)	Inherited optic neuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
722990003 View
722990003	Congenital atrophy of optic nerve (disorder)	Congenital optic atrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
442459007 View
442459007	Combined immunodeficiency disease (disorder)	Combined immunodeficiency disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
8447006 View
8447006	Congenital anomaly of skeletal bone (disorder)	Congenital skeletal anomaly	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
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
95477007 View
95477007	Congenital degeneration of nervous system (disorder)	Congenital neurological degeneration	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95502000 View
95502000	Congenital anomaly of optic nerve (disorder)	Congenital anomaly of optic nerve	900000000000073002 \|Sufficiently defined by necessary conditions 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
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 (9cc35e41-e673-5fa7-9782-721562fc46f5) 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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