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Terminology chevron_right Concepts chevron_right 778006008

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Component

778006008

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal dominant aplasia and myelodysplasia (disorder)

Shortest Term

Autosomal dominant aplasia and myelodysplasia

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

Autosomal dominant aplasia and myelodysplasia (disorder)

SCTID: 778006008, Primitive, Active

778006008|Autosomal dominant aplasia and myelodysplasia (disorder)|

en Autosomal dominant aplasia and myelodysplasia
en Autosomal dominant aplasia and myelodysplasia (disorder)
en Autosomal dominant aplastic anaemia and myelodysplasia
en Autosomal dominant aplastic anemia and myelodysplasia

Expression

778006008 |Autosomal dominant aplasia and myelodysplasia (disorder)|
 <<< 788953003 |Hereditary hearing loss (disorder)| + 
127035006 |Bone marrow disorder (disorder)| + 
95828007 |Congenital deafness (disorder)| + 
111339003 |Congenital anomaly of ear with impairment of hearing (disorder)| + 
43353004 |Congenital anomaly of inner ear (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| : 
        { 363698007 |Finding site (attribute)| = 14016003 |Bone marrow structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 22945000 |Inner ear structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3736388011 - Autosomal dominant aplasia and myelodysplasia (en) View
3736388011	en	Synonym (core metadata concept)	Autosomal dominant aplasia and myelodysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3736387018 - Autosomal dominant aplasia and myelodysplasia (disorder) (en) View
3736387018	en	Fully specified name (core metadata concept)	Autosomal dominant aplasia and myelodysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3736389015 - Autosomal dominant aplastic anaemia and myelodysplasia (en) View
3736389015	en	Synonym (core metadata concept)	Autosomal dominant aplastic anaemia and myelodysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3736390012 - Autosomal dominant aplastic anemia and myelodysplasia (en) View
3736390012	en	Synonym (core metadata concept)	Autosomal dominant aplastic anemia and myelodysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10726890024) - 778006008 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374476020) - 778006008 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069705025) - 778006008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11306311020) - 778006008 -> 111339003 (116680003) View
116680003 \|Is a (attribute)\|	111339003 \|Congenital anomaly of ear with impairment of hearing (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11306312029) - 778006008 -> 43353004 (116680003) View
116680003 \|Is a (attribute)\|	43353004 \|Congenital anomaly of inner ear (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573869026) - 778006008 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726886022) - 778006008 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726887029) - 778006008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726888023) - 778006008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726889026) - 778006008 -> 14016003 (363698007) View
363698007 \|Finding site (attribute)\|	14016003 \|Bone marrow structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726891023) - 778006008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726892027) - 778006008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726893021) - 778006008 -> 127035006 (116680003) View
116680003 \|Is a (attribute)\|	127035006 \|Bone marrow disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726894026) - 778006008 -> 95828007 (116680003) View
116680003 \|Is a (attribute)\|	95828007 \|Congenital deafness (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10726895025) - 778006008 -> 22945000 (363698007) View
363698007 \|Finding site (attribute)\|	22945000 \|Inner ear structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
788953003 View
788953003	Hereditary hearing loss (disorder)	Hereditary hearing loss	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95828007 View
95828007	Congenital deafness (disorder)	Congenital deafness	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
111339003 View
111339003	Congenital anomaly of ear with impairment of hearing (disorder)	Congenital anomaly of ear with impairment of hearing	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
43353004 View
43353004	Congenital anomaly of inner ear (disorder)	Congenital anomaly of inner ear	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
127035006 View
127035006	Bone marrow disorder (disorder)	Bone marrow disorder	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 (772e726e-05cb-50f1-bbc0-ffbe6d15d6df) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D61.0	TRUE	ALWAYS D61.0 \| 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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