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Terminology chevron_right Concepts chevron_right 732926009

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Component

732926009

The component that hold information about this concept.

Fully Specified Name (FSN)

Hydrocephalus, tall stature, joint laxity syndrome (disorder)

Shortest Term

Daish hardman lamont 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

Hydrocephalus, tall stature, joint laxity syndrome (disorder)

SCTID: 732926009, Primitive, Active

732926009|Hydrocephalus, tall stature, joint laxity syndrome (disorder)|

en Daish hardman lamont syndrome
en Hydrocephalus, tall stature, joint laxity syndrome
en Hydrocephalus, tall stature, joint laxity syndrome (disorder)
en Hydrocephaly, tall stature, joint laxity syndrome

Expression

732926009 |Hydrocephalus, tall stature, joint laxity syndrome (disorder)|
 <<< 254033007 |Congenital deformity of lumbosacral region (disorder)| + 
71311003 |Congenital kyphosis (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
237834000 |Disorder of stature (disorder)| + 
298203008 |Joint laxity (finding)| + 
298493002 |Kyphosis deformity of thoracic spine (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
399269003 |Arthropathy (disorder)| + 
363037003 |Congenital anomaly of upper trunk (disorder)| + 
363032009 |Congenital anomaly of musculoskeletal structure of trunk (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
298589006 |Deformity of lumbar spine (finding)| + 
129139009 |Disorder of lumbar spine (disorder)| + 
47032000 |Congenital hydrocephalus (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 61051007 |Anteroposterior abnormal curvature (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 297167000 |Musculoskeletal structure of thoracic spine (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25322007 |Dilatation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 280371009 |Brain cerebrospinal fluid pathway (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 39352004 |Joint structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 61051007 |Anteroposterior abnormal curvature (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 297168005 |Musculoskeletal structure of lumbar spine (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
3467424017 - Daish Hardman Lamont syndrome (en) View
3467424017	en	Synonym (core metadata concept)	Daish Hardman Lamont syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3467423011 - Hydrocephalus, tall stature, joint laxity syndrome (en) View
3467423011	en	Synonym (core metadata concept)	Hydrocephalus, tall stature, joint laxity syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3467422018 - Hydrocephalus, tall stature, joint laxity syndrome (disorder) (en) View
3467422018	en	Fully specified name (core metadata concept)	Hydrocephalus, tall stature, joint laxity syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3467425016 - Hydrocephaly, tall stature, joint laxity syndrome (en) View
3467425016	en	Synonym (core metadata concept)	Hydrocephaly, tall stature, joint laxity syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10525868025) - 732926009 -> 363037003 (116680003) View
116680003 \|Is a (attribute)\|	363037003 \|Congenital anomaly of upper trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13651403026) - 732926009 -> 363035006 (116680003) View
116680003 \|Is a (attribute)\|	363035006 \|Congenital anomaly of thorax (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13799502026) - 732926009 -> 363030001 (116680003) View
116680003 \|Is a (attribute)\|	363030001 \|Congenital anomaly of lower trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13799505029) - 732926009 -> 363027008 (116680003) View
116680003 \|Is a (attribute)\|	363027008 \|Congenital anomaly of body wall (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15223358028) - 732926009 -> 254033007 (116680003) View
116680003 \|Is a (attribute)\|	254033007 \|Congenital deformity of lumbosacral region (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548988024) - 732926009 -> 46360000 (116676008) View
116676008 \|Associated morphology (attribute)\|	46360000 \|Abnormal curvature (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13799501022) - 732926009 -> 46360000 (116676008) View
116676008 \|Associated morphology (attribute)\|	46360000 \|Abnormal curvature (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15152026021) - 732926009 -> 61051007 (116676008) View
116676008 \|Associated morphology (attribute)\|	61051007 \|Anteroposterior abnormal curvature (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15152027028) - 732926009 -> 61051007 (116676008) View
116676008 \|Associated morphology (attribute)\|	61051007 \|Anteroposterior abnormal curvature (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13799500023) - 732926009 -> 297168005 (363698007) View
363698007 \|Finding site (attribute)\|	297168005 \|Musculoskeletal structure of lumbar spine (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13799503020) - 732926009 -> 298589006 (116680003) View
116680003 \|Is a (attribute)\|	298589006 \|Deformity of lumbar spine (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13799504025) - 732926009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13799506028) - 732926009 -> 129139009 (116680003) View
116680003 \|Is a (attribute)\|	129139009 \|Disorder of lumbar spine (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13799507021) - 732926009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11505588022) - 732926009 -> 205043005 (116680003) View
116680003 \|Is a (attribute)\|	205043005 \|Congenital deformity of spine (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069528026) - 732926009 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280544022) - 732926009 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968774026) - 732926009 -> 364563006 (363714003) View
363714003 \|Interprets (attribute)\|	364563006 \|Joint movement (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525867024) - 732926009 -> 699943005 (116680003) View
116680003 \|Is a (attribute)\|	699943005 \|Congenital anomaly of vertebral region of back (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10548991024) - 732926009 -> 58371004 (116676008) View
116676008 \|Associated morphology (attribute)\|	58371004 \|Congenital dilatation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11104954021) - 732926009 -> 276655000 (116680003) View
116680003 \|Is a (attribute)\|	276655000 \|Congenital deformity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225347022) - 732926009 -> 25322007 (116676008) View
116676008 \|Associated morphology (attribute)\|	25322007 \|Dilatation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968776029) - 732926009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6968778028) - 732926009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6968780023) - 732926009 -> 58371004 (116676008) View
116676008 \|Associated morphology (attribute)\|	58371004 \|Congenital dilatation (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6968781022) - 732926009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6968782026) - 732926009 -> 280371009 (363698007) View
363698007 \|Finding site (attribute)\|	280371009 \|Brain cerebrospinal fluid pathway (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6978881028) - 732926009 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6980508023) - 732926009 -> 46360000 (116676008) View
116676008 \|Associated morphology (attribute)\|	46360000 \|Abnormal curvature (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6980509026) - 732926009 -> 297167000 (363698007) View
363698007 \|Finding site (attribute)\|	297167000 \|Musculoskeletal structure of thoracic spine (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525857025) - 732926009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525860021) - 732926009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525862029) - 732926009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525863023) - 732926009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525865027) - 732926009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525866026) - 732926009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539046020) - 732926009 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548989027) - 732926009 -> 297167000 (363698007) View
363698007 \|Finding site (attribute)\|	297167000 \|Musculoskeletal structure of thoracic spine (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548990020) - 732926009 -> 280371009 (363698007) View
363698007 \|Finding site (attribute)\|	280371009 \|Brain cerebrospinal fluid pathway (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11156259026) - 732926009 -> 363032009 (116680003) View
116680003 \|Is a (attribute)\|	363032009 \|Congenital anomaly of musculoskeletal structure of trunk (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968764029) - 732926009 -> 47032000 (116680003) View
116680003 \|Is a (attribute)\|	47032000 \|Congenital hydrocephalus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968765028) - 732926009 -> 71311003 (116680003) View
116680003 \|Is a (attribute)\|	71311003 \|Congenital kyphosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968766027) - 732926009 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968767020) - 732926009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968768026) - 732926009 -> 237834000 (116680003) View
116680003 \|Is a (attribute)\|	237834000 \|Disorder of stature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968769023) - 732926009 -> 298203008 (116680003) View
116680003 \|Is a (attribute)\|	298203008 \|Joint laxity (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968770024) - 732926009 -> 298493002 (116680003) View
116680003 \|Is a (attribute)\|	298493002 \|Kyphosis deformity of thoracic spine (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968771023) - 732926009 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968772027) - 732926009 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6968773021) - 732926009 -> 399269003 (116680003) View
116680003 \|Is a (attribute)\|	399269003 \|Arthropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
71311003 View
71311003	Congenital kyphosis (disorder)	Congenital humpback	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
47032000 View
47032000	Congenital hydrocephalus (disorder)	Primary hydrocephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
298493002 View
298493002	Kyphosis deformity of thoracic spine (disorder)	Kyphosis of dorsal spine	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363032009 View
363032009	Congenital anomaly of musculoskeletal structure of trunk (disorder)	Congenital anomaly of musculoskeletal structure of trunk	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363037003 View
363037003	Congenital anomaly of upper trunk (disorder)	Congenital anomaly of upper trunk	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254033007 View
254033007	Congenital deformity of lumbosacral region (disorder)	Congenital deformity of lumbosacral region	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
298589006 View
298589006	Deformity of lumbar spine (finding)	Deformity of lumbar spine	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
399269003 View
399269003	Arthropathy (disorder)	Bệnh khớp	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation 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
129139009 View
129139009	Disorder of lumbar spine (disorder)	Bệnh cột sống thắt lưng	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237834000 View
237834000	Disorder of stature (disorder)	Disorder of stature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
298203008 View
298203008	Joint laxity (finding)	Joint laxity	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
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (cf026033-ced6-5c35-a927-2e6a3687977f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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