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Terminology chevron_right Concepts chevron_right 720601000

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Language with ID “38471d08-9a77-58a0-a19e-e6a67ef8f86f” doesn’t exist. Perhaps it was deleted?

Component

720601000

The component that hold information about this concept.

Fully Specified Name (FSN)

Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)

Shortest Term

Catshl (camptodactyly, tall stature, scoliosis, hearing loss) 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

Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)

SCTID: 720601000, Primitive, Active

720601000|Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)|

en Camptodactyly and tall stature with scoliosis and hearing loss syndrome
en Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
en Catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome

Expression

720601000 |Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)|
 <<< 1899006 |Autosomal hereditary disorder (disorder)| + 
29271008 |Camptodactyly (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
109420003 |Dysostosis (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
20948006 |Congenital anomaly of finger (disorder)| + 
309463003 |Flexion deformity of hand (finding)| + 
299055007 |Finding of musculoskeletal structure of digit of hand (finding)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1230354001 |Congenital deformity of hand (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 788600005 |Fixed flexion deformity (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 310792004 |Musculoskeletal structure of digit of hand (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)| = 7569003 |Finger structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (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)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3321505010 - Camptodactyly and tall stature with scoliosis and hearing loss syndrome (en) View
3321505010	en	Synonym (core metadata concept)	Camptodactyly and tall stature with scoliosis and hearing loss syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3321504014 - Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) (en) View
3321504014	en	Fully specified name (core metadata concept)	Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3321502013 - CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome (en) View
3321502013	en	Synonym (core metadata concept)	CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6681157022) - 720601000 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374413024) - 720601000 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15230093022) - 720601000 -> 1230354001 (116680003) View
116680003 \|Is a (attribute)\|	1230354001 \|Congenital deformity of hand (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091193028) - 720601000 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069245024) - 720601000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12661696020) - 720601000 -> 309463003 (116680003) View
116680003 \|Is a (attribute)\|	309463003 \|Flexion deformity of hand (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12661697027) - 720601000 -> 299055007 (116680003) View
116680003 \|Is a (attribute)\|	299055007 \|Finding of musculoskeletal structure of digit of hand (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681160026) - 720601000 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11104750022) - 720601000 -> 88565003 (116676008) View
116676008 \|Associated morphology (attribute)\|	88565003 \|Flexion deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091191026) - 720601000 -> 788600005 (116676008) View
116676008 \|Associated morphology (attribute)\|	788600005 \|Fixed flexion deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091192022) - 720601000 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091194023) - 720601000 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539944021) - 720601000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11227732028) - 720601000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11305442023) - 720601000 -> 20948006 (116680003) View
116680003 \|Is a (attribute)\|	20948006 \|Congenital anomaly of finger (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681153021) - 720601000 -> 92907008 (116680003) View
116680003 \|Is a (attribute)\|	92907008 \|Congenital abnormal shape of digit (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681156029) - 720601000 -> 276655000 (116680003) View
116680003 \|Is a (attribute)\|	276655000 \|Congenital deformity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681158028) - 720601000 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681162023) - 720601000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681165020) - 720601000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6681168022) - 720601000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6682460023) - 720601000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6682461022) - 720601000 -> 7569003 (363698007) View
363698007 \|Finding site (attribute)\|	7569003 \|Finger structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6686241026) - 720601000 -> 102284009 (116676008) View
116676008 \|Associated morphology (attribute)\|	102284009 \|Congenital flexion deformity (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6686242022) - 720601000 -> 310792004 (363698007) View
363698007 \|Finding site (attribute)\|	310792004 \|Musculoskeletal structure of digit of hand (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6686243028) - 720601000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6686244023) - 720601000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533087027) - 720601000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533089029) - 720601000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533092025) - 720601000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533093024) - 720601000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533096027) - 720601000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533097020) - 720601000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539939025) - 720601000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539940028) - 720601000 -> 7569003 (363698007) View
363698007 \|Finding site (attribute)\|	7569003 \|Finger structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539942020) - 720601000 -> 310792004 (363698007) View
363698007 \|Finding site (attribute)\|	310792004 \|Musculoskeletal structure of digit of hand (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539943026) - 720601000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681150024) - 720601000 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681151023) - 720601000 -> 29271008 (116680003) View
116680003 \|Is a (attribute)\|	29271008 \|Camptodactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681152027) - 720601000 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681154026) - 720601000 -> 109420003 (116680003) View
116680003 \|Is a (attribute)\|	109420003 \|Dysostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681155025) - 720601000 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6681159020) - 720601000 -> 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
788953003 View
788953003	Hereditary hearing loss (disorder)	Hereditary hearing loss	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1230354001 View
1230354001	Congenital deformity of hand (disorder)	Congenital deformity of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
29271008 View
29271008	Camptodactyly (disorder)	Camptodactyly	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
299055007 View
299055007	Finding of musculoskeletal structure of digit of hand (finding)	Finding of musculoskeletal structure of digit of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
309463003 View
309463003	Flexion deformity of hand (finding)	Flexion deformity of hand	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1899006 View
1899006	Autosomal hereditary disorder (disorder)	Autosomal hereditary disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
20948006 View
20948006	Congenital anomaly of finger (disorder)	Congenital anomaly of finger	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
109420003 View
109420003	Dysostosis (disorder)	Dysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
232333009 View
232333009	Hearing loss associated with syndrome (disorder)	Syndromal deafness	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 (911597fb-d846-5ed6-bbb6-84b8d2a2840d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2 \| 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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