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Terminology chevron_right Concepts chevron_right 22841008

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Component

22841008

The component that hold information about this concept.

Fully Specified Name (FSN)

Phocomelia (disorder)

Shortest Term

Phocomelia

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

Phocomelia (disorder)

SCTID: 22841008, Primitive, Active

22841008|Phocomelia (disorder)|

en Congenital absence of proximal portion of limb
en Phocomelia
en Phocomelia (disorder)
en Phocomelic dwarf

Expression

22841008 |Phocomelia (disorder)|
 <<< 60220000 |Partial congenital absence of limb (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 120573002 |Extremity part (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
38345011 - Congenital absence of proximal portion of limb (en) View
38345011	en	Synonym (core metadata concept)	Congenital absence of proximal portion of limb	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
38342014 - Phocomelia (en) View
38342014	en	Synonym (core metadata concept)	Phocomelia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
752295016 - Phocomelia (disorder) (en) View
752295016	en	Fully specified name (core metadata concept)	Phocomelia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
38344010 - Phocomelic dwarf (en) View
38344010	en	Synonym (core metadata concept)	Phocomelic dwarf	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
38343016 - Phocomelia, NOS (en) View
38343016	en	Synonym (core metadata concept)	Phocomelia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (729205024) - 22841008 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13186774024) - 22841008 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4979551022) - 22841008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5909290024) - 22841008 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6549311029) - 22841008 -> 120573002 (363698007) View
363698007 \|Finding site (attribute)\|	120573002 \|Extremity part (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515949026) - 22841008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515950026) - 22841008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515951027) - 22841008 -> 120573002 (363698007) View
363698007 \|Finding site (attribute)\|	120573002 \|Extremity part (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1670993027) - 22841008 -> 67341007 (116680003) View
116680003 \|Is a (attribute)\|	67341007 \|Longitudinal deficiency of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3777408020) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3777409028) - 22841008 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5879008024) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5909292027) - 22841008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6028942022) - 22841008 -> 45056002 (116676008) View
116676008 \|Associated morphology (attribute)\|	45056002 \|Abnormally short (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6549310028) - 22841008 -> 60220000 (116680003) View
116680003 \|Is a (attribute)\|	60220000 \|Partial congenital absence of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4979553020) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5024743021) - 22841008 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729202022) - 22841008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2689611025) - 22841008 -> 62588002 (116680003) View
116680003 \|Is a (attribute)\|	62588002 \|Amelia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3089993024) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1760367025) - 22841008 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3089994029) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2973748027) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2973749024) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2908726027) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2908727020) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2815748028) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2815749020) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2668065025) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2668066029) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2226086025) - 22841008 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2449924021) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2520953026) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729203028) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2214793022) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2196586026) - 22841008 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (185268026) - 22841008 -> 60475009 (116680003) View
116680003 \|Is a (attribute)\|	60475009 \|Congenital anomaly of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729204023) - 22841008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (729206020) - 22841008 -> 281242000 (363698007) View
363698007 \|Finding site (attribute)\|	281242000 \|Musculoskeletal structure of limb (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
60220000 View
60220000	Partial congenital absence of limb (disorder)	Meromelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
253963009 View
253963009	Phocomelia of the lower limb (disorder)	Phocomelia of lower limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253926000 View
253926000	Phocomelia of the upper limb (disorder)	Phocomelia of upper limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
715506001 View
715506001	Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Stoll lévy francfort syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715522000 View
715522000	Phocomelia schinzel type (disorder)	Phocomelia schinzel type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
48718006 View
48718006	Roberts-sc phocomelia syndrome (disorder)	Robert's 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 (2b173ea3-d0c4-5f5b-85d5-f07e2d4ef2b6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q73.1	TRUE	ALWAYS Q73.1	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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