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Terminology chevron_right Concepts chevron_right 67341007

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Component

67341007

The component that hold information about this concept.

Fully Specified Name (FSN)

Longitudinal deficiency of limb (disorder)

Shortest Term

Hemimelia

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Longitudinal deficiency of limb (disorder)

SCTID: 67341007, Defined, Active

67341007|Longitudinal deficiency of limb (disorder)|

en Hemimelia
en Limb reduction defect
en Longitudinal deficiency of limb
en Longitudinal deficiency of limb (disorder)
en Reduction deformity of limb

Expression

67341007 |Longitudinal deficiency of limb (disorder)|
 === 276655000 |Congenital deformity (disorder)| + 
445144002 |Deformity of limb (finding)| + 
60475009 |Congenital anomaly of limb (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 45056002 |Abnormally short (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4009584010 - Hemimelia (en) View
4009584010	en	Synonym (core metadata concept)	Hemimelia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
111903019 - Limb reduction defect (en) View
111903019	en	Synonym (core metadata concept)	Limb reduction defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
111898018 - Longitudinal deficiency of limb (en) View
111898018	en	Synonym (core metadata concept)	Longitudinal deficiency of limb	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
807055012 - Longitudinal deficiency of limb (disorder) (en) View
807055012	en	Fully specified name (core metadata concept)	Longitudinal deficiency of limb (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
111902012 - Reduction deformity of limb (en) View
111902012	en	Synonym (core metadata concept)	Reduction deformity of limb	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
111901017 - Limb reduction defect, NOS (en) View
111901017	en	Synonym (core metadata concept)	Limb reduction defect, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
111899014 - Longitudinal deficiency of limb, NOS (en) View
111899014	en	Synonym (core metadata concept)	Longitudinal deficiency of limb, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
111900016 - Reduction deformity of limb, NOS (en) View
111900016	en	Synonym (core metadata concept)	Reduction deformity of limb, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (257665027) - 67341007 -> 60475009 (116680003) View
116680003 \|Is a (attribute)\|	60475009 \|Congenital anomaly of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4983384021) - 67341007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028995020) - 67341007 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028996021) - 67341007 -> 128605003 (116680003) View
116680003 \|Is a (attribute)\|	128605003 \|Disorder of extremity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028997028) - 67341007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6028998022) - 67341007 -> 45056002 (116676008) View
116676008 \|Associated morphology (attribute)\|	45056002 \|Abnormally short (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6597316025) - 67341007 -> 45056002 (116676008) View
116676008 \|Associated morphology (attribute)\|	45056002 \|Abnormally short (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6597317023) - 67341007 -> 243996003 (363698007) View
363698007 \|Finding site (attribute)\|	243996003 \|Entire limb (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13273264020) - 67341007 -> 276655000 (116680003) View
116680003 \|Is a (attribute)\|	276655000 \|Congenital deformity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13273265021) - 67341007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13273266022) - 67341007 -> 243996003 (363698007) View
363698007 \|Finding site (attribute)\|	243996003 \|Entire limb (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6028999025) - 67341007 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4983386023) - 67341007 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5025019021) - 67341007 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (842161025) - 67341007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3366258025) - 67341007 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3782142024) - 67341007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5025018029) - 67341007 -> 445144002 (116680003) View
116680003 \|Is a (attribute)\|	445144002 \|Deformity of limb (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3655307028) - 67341007 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3696566023) - 67341007 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2842771026) - 67341007 -> 417893002 (116680003) View
116680003 \|Is a (attribute)\|	417893002 \|Deformity (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3366257024) - 67341007 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (842157020) - 67341007 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (842159023) - 67341007 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (842158026) - 67341007 -> 281242000 (363698007) View
363698007 \|Finding site (attribute)\|	281242000 \|Musculoskeletal structure of limb (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (842160029) - 67341007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
445144002 View
445144002	Deformity of limb (finding)	Deformity of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
276655000 View
276655000	Congenital deformity (disorder)	Congenital deformity	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
60475009 View
60475009	Congenital anomaly of limb (disorder)	Congenital anomaly of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1230098009 View
1230098009	Femur fibula ulna complex (disorder)	Femur fibula ulna complex	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208338004 View
1208338004	Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)	Medeira dennis donnai syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783137003 View
783137003	Radial deficiency, tibial hypoplasia syndrome (disorder)	Radial deficiency, tibial hypoplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783156008 View
783156008	Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder)	Fatco syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766765009 View
766765009	Radio-renal syndrome (disorder)	Hội chứng đài-thận	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766821006 View
766821006	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726724005 View
726724005	Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Splenogonadal fusion limb defect syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717771007 View
717771007	Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Cloverleaf skull with multiple congenital anomalies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719400000 View
719400000	Lethal faciocardiomelic dysplasia (disorder)	Lethal faciocardiomelic dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720414005 View
720414005	Acrorenal mandibular syndrome (disorder)	Acrorenal mandibular syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720430002 View
720430002	Acrofacial dysostosis rodriguez type (disorder)	Acrofacial dysostosis rodriguez type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721009008 View
721009008	Heart defect and limb shortening syndrome (disorder)	Cardioskeletal syndrome kuwaiti type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721880009 View
721880009	Congenital microgastria with limb reduction defect syndrome (disorder)	Congenital microgastria with limb reduction defect syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721972001 View
721972001	Limb mammary syndrome (disorder)	Limb mammary syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722429003 View
722429003	Distal limb deficiency with micrognathia syndrome (disorder)	Buttiens fryns syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
43036001 View
43036001	Ectromelia (disorder)	Ectromelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
45806008 View
45806008	Reduction deformity of upper limb (disorder)	Arm reduction deformity	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
77595004 View
77595004	Reduction deformity of lower limb (disorder)	Leg reduction deformity	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
68551007 View
68551007	Limb reduction-ichthyosis syndrome (disorder)	Limb reduction-ichthyosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
75049004 View
75049004	Jeune thoracic dystrophy (disorder)	Jeune syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (25e5c36d-ce93-5e25-bdba-1c31f78d2bf0) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q73.8	TRUE	ALWAYS Q73.8	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)\|

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