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Terminology chevron_right Concepts chevron_right 722429003

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Component

722429003

The component that hold information about this concept.

Fully Specified Name (FSN)

Distal limb deficiency with micrognathia syndrome (disorder)

Shortest Term

Buttiens fryns 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

Distal limb deficiency with micrognathia syndrome (disorder)

SCTID: 722429003, Primitive, Active

722429003|Distal limb deficiency with micrognathia syndrome (disorder)|

en 10q24 microduplication syndrome
en Distal limb deficiency with micrognathia syndrome
en Distal limb deficiency with micrognathia syndrome (disorder)
en Buttiens fryns syndrome

Expression

722429003 |Distal limb deficiency with micrognathia syndrome (disorder)|
 <<< 23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
32958008 |Congenital micrognathism (disorder)| + 
67341007 |Longitudinal deficiency of limb (disorder)| + 
73035005 |10q partial trisomy syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 91609006 |Bone structure of mandible (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 243996003 |Entire limb (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 133849008 |Partial trisomy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 56332006 |Chromosome pair 10 (cell 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
3332025012 - 10q24 microduplication syndrome (en) View
3332025012	en	Synonym (core metadata concept)	10q24 microduplication syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3332024011 - Distal limb deficiency with micrognathia syndrome (en) View
3332024011	en	Synonym (core metadata concept)	Distal limb deficiency with micrognathia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3331447019 - Distal limb deficiency with micrognathia syndrome (disorder) (en) View
3331447019	en	Fully specified name (core metadata concept)	Distal limb deficiency with micrognathia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3332026013 - Buttiens Fryns syndrome (en) View
3332026013	en	Synonym (core metadata concept)	Buttiens Fryns syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6791453029) - 722429003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730342025) - 722429003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730343024) - 722429003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730344029) - 722429003 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11105962021) - 722429003 -> 276655000 (116680003) View
116680003 \|Is a (attribute)\|	276655000 \|Congenital deformity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069392020) - 722429003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791450026) - 722429003 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791456021) - 722429003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791458022) - 722429003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791459025) - 722429003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791460024) - 722429003 -> 91609006 (363698007) View
363698007 \|Finding site (attribute)\|	91609006 \|Bone structure of mandible (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6795060023) - 722429003 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6795061022) - 722429003 -> 243996003 (363698007) View
363698007 \|Finding site (attribute)\|	243996003 \|Entire limb (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6804586026) - 722429003 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6804587024) - 722429003 -> 56332006 (363698007) View
363698007 \|Finding site (attribute)\|	56332006 \|Chromosome pair 10 (cell structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10530036029) - 722429003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530037022) - 722429003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530038028) - 722429003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530041021) - 722429003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530042025) - 722429003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530045028) - 722429003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539527029) - 722429003 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539528023) - 722429003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539529026) - 722429003 -> 91609006 (363698007) View
363698007 \|Finding site (attribute)\|	91609006 \|Bone structure of mandible (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539530020) - 722429003 -> 133849008 (116676008) View
116676008 \|Associated morphology (attribute)\|	133849008 \|Partial trisomy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539531024) - 722429003 -> 243996003 (363698007) View
363698007 \|Finding site (attribute)\|	243996003 \|Entire limb (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539532028) - 722429003 -> 56332006 (363698007) View
363698007 \|Finding site (attribute)\|	56332006 \|Chromosome pair 10 (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791445021) - 722429003 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791446022) - 722429003 -> 32958008 (116680003) View
116680003 \|Is a (attribute)\|	32958008 \|Congenital micrognathism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791447029) - 722429003 -> 67341007 (116680003) View
116680003 \|Is a (attribute)\|	67341007 \|Longitudinal deficiency of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791448023) - 722429003 -> 73035005 (116680003) View
116680003 \|Is a (attribute)\|	73035005 \|10q partial trisomy syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791449026) - 722429003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791451027) - 722429003 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	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
32958008 View
32958008	Congenital micrognathism (disorder)	Small jaw	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
67341007 View
67341007	Longitudinal deficiency of limb (disorder)	Hemimelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
73035005 View
73035005	10q partial trisomy syndrome (disorder)	10q partial trisomy syndrome	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
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 (fad0754b-fb85-52f9-a2fe-aa2ce35335bf) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q92.3	TRUE	ALWAYS Q92.3	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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