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Terminology chevron_right Concepts chevron_right 105986008

Production

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Component

105986008

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital skeletal dysplasia (disorder)

Shortest Term

Osteodysplasia

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

Congenital skeletal dysplasia (disorder)

SCTID: 105986008, Defined, Active

105986008|Congenital skeletal dysplasia (disorder)|

en Osteochondrodysplasia
en Osteodysplasia
en Congenital skeletal dysplasia
en Congenital skeletal dysplasia (disorder)
en Skeletal dysplasia

Expression

105986008 |Congenital skeletal dysplasia (disorder)|
 === 73573004 |Congenital anomaly of musculoskeletal system (disorder)| + 
897444001 |Structural abnormality of skeleton (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113192009 |Skeletal system structure (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
3758347014 - Osteochondrodysplasia (en) View
3758347014	en	Synonym (core metadata concept)	Osteochondrodysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3758348016 - Osteodysplasia (en) View
3758348016	en	Synonym (core metadata concept)	Osteodysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2764211017 - Congenital skeletal dysplasia (en) View
2764211017	en	Synonym (core metadata concept)	Congenital skeletal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
576961012 - Congenital skeletal dysplasia (disorder) (en) View
576961012	en	Fully specified name (core metadata concept)	Congenital skeletal dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
170405012 - Skeletal dysplasia (en) View
170405012	en	Synonym (core metadata concept)	Skeletal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (19744023) - 105986008 -> 88230002 (116680003) View
116680003 \|Is a (attribute)\|	88230002 \|Disorder of skeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16381784026) - 105986008 -> 897444001 (116680003) View
116680003 \|Is a (attribute)\|	897444001 \|Structural abnormality of skeleton (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (19745024) - 105986008 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462997021) - 105986008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (462998027) - 105986008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (462999024) - 105986008 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3340551021) - 105986008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11286323029) - 105986008 -> 73573004 (116680003) View
116680003 \|Is a (attribute)\|	73573004 \|Congenital anomaly of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4979110028) - 105986008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989093023) - 105986008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023341029) - 105986008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6094305023) - 105986008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519569024) - 105986008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (462996028) - 105986008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2530656025) - 105986008 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3474337021) - 105986008 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1720685027) - 105986008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897444001 View
897444001	Structural abnormality of skeleton (disorder)	Abnormal skeleton morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
73573004 View
73573004	Congenital anomaly of musculoskeletal system (disorder)	Congenital musculoskeletal abnormality	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1142185008 View
1142185008	Congenital dysplasia of radius (disorder)	Congenital dysplasia of radius	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1142190006 View
1142190006	Congenital dysplasia of head of femur (disorder)	Dysplasia of femoral head	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1142196000 View
1142196000	Congenital dysplasia of spine (disorder)	Spinal dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1363579009 View
1363579009	Dysplastic cortical hyperostosis (disorder)	Dysplastic cortical hyperostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1297353008 View
1297353008	Congenital dysplasia of joint of knee (disorder)	Congenital dysplasia of joint of knee	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1297362005 View
1297362005	Congenital dysplasia of joint of shoulder region (disorder)	Congenital dysplasia of joint of shoulder region	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1299163000 View
1299163000	Congenital dysplasia of joint of foot (disorder)	Congenital dysplasia of joint of foot	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1300218002 View
1300218002	Congenital dysplasia of ankle joint (disorder)	Congenital dysplasia of ankle joint	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1284851009 View
1284851009	Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome (disorder)	Liberfarb syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1263463009 View
1263463009	Rhizomelic dysplasia (disorder)	Rhizomelic dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237513008 View
1237513008	Osteosclerotic metaphyseal dysplasia (disorder)	Osteosclerotic metaphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1236845001 View
1236845001	Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum (disorder)	Donson-related microcephaly, short stature, limb abnormalities spectrum	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1234828008 View
1234828008	Osteofibrous dysplasia (disorder)	Osteofibrous dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197057002 View
1197057002	Hallermann streiff like syndrome (disorder)	Dennis fairhurst moore syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197586007 View
1197586007	Short stature, advanced bone age, early-onset osteoarthritis syndrome (disorder)	Short stature, advanced bone age, early-onset osteoarthritis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1179299005 View
1179299005	Nima related kinase 9 lethal skeletal dysplasia (disorder)	Nek9-related lethal skeletal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1169363004 View
1169363004	Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder)	Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172898008 View
1172898008	Kosaki overgrowth syndrome (disorder)	Kosaki overgrowth syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254050009 View
254050009	Short rib dysplasia (disorder)	Short rib syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
897590006 View
897590006	Congenital dysplasia of bone caused by drug (disorder)	Drug-induced bone dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254117007 View
254117007	Dysplasia with defective mineralization (disorder)	Dysplasia with defective mineralisation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
389276005 View
389276005	Congenital dysplasia of patella (disorder)	Patella dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
789777007 View
789777007	Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Immunodeficiency, short limb dwarfism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
50108000 View
50108000	Osteochondrodysplasia with osteopetrosis (disorder)	Osteochondrodysplasia with osteopetrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
78314001 View
78314001	Osteogenesis imperfecta (disorder)	Osteopsathyrosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254080004 View
254080004	Epiphyseal dysplasia (disorder)	Epiphyseal dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254098000 View
254098000	Multiple dislocations with dysplasia (disorder)	Multiple dislocations with dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254104009 View
254104009	Dysplasia with decreased bone density (disorder)	Dysplasia with decreased bone density	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254120004 View
254120004	Dysplasia with increased bone density (disorder)	Dysplasia with increased bone density	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254140006 View
254140006	Disorganized development of cartilaginous and fibrous components of the skeleton (disorder)	Disorganised development of cartilaginous and fibrous components of the skeleton	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
783004003 View
783004003	Thin ribs, tubular bones, dysmorphism syndrome (disorder)	Sharma kapoor ramji syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783181006 View
783181006	Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Benallegue lacete syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784006008 View
784006008	Spondylometaphyseal dysplasia (disorder)	Spondylometaphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784010006 View
784010006	Otopalatodigital syndrome spectrum disorder (disorder)	Opd (otopalatodigital) spectrum disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770755007 View
770755007	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)	Congenital disorder of glycosylation due to pigt deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771338002 View
771338002	Parietal foramina with clavicular hypoplasia (disorder)	Parietal foramina with clavicular hypoplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773278003 View
773278003	Familial osteodysplasia anderson type (disorder)	Familial osteodysplasia anderson type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773625007 View
773625007	Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Soft syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773672007 View
773672007	Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Lethal occipital encephalocele, skeletal dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773702002 View
773702002	Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Interleukin-1 receptor antagonist deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774155009 View
774155009	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder)	Sams syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763868006 View
763868006	Short stature homeobox related short stature (disorder)	Shox-related short stature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764437006 View
764437006	Brachydactyly elbow wrist dysplasia (disorder)	Liebenberg syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723999009 View
723999009	Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Rhyns syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724140002 View
724140002	Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Verloes van maldergem de marneffe syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724145007 View
724145007	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725100001 View
725100001	Craniolenticulosutural dysplasia (disorder)	Boyadjiev jabs syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732248005 View
732248005	Coxoauricular syndrome (disorder)	Coxoauricular syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733031004 View
733031004	Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Battaglia neri syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733095006 View
733095006	Skeletal dysplasia brachydactyly syndrome (disorder)	Mononen karnes senac syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719258003 View
719258003	Pyknoachondrogenesis (disorder)	Camera syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720603002 View
720603002	Camptodactyly syndrome guadalajara type 2 (disorder)	Camptodactyly syndrome guadalajara type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720754008 View
720754008	Craniofacial conodysplasia syndrome (disorder)	Craniofacial conodysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720957007 View
720957007	Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Fountain syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720958002 View
720958002	Frank-ter haar syndrome (disorder)	Ter haar syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720984008 View
720984008	Angel-shaped phalangoepiphyseal dysplasia (disorder)	Angel-shaped phalangoepiphyseal dysplasia	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
721086004 View
721086004	Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Pfeiffer kapferer syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721973006 View
721973006	Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Rajab spranger syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722002002 View
722002002	Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Scholte syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722109008 View
722109008	Osteocraniostenosis (disorder)	Osteocraniostenosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722298001 View
722298001	Ballard syndrome (disorder)	Ballard syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715421009 View
715421009	Craniofrontonasal dysplasia (disorder)	Craniofrontonasal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715428003 View
715428003	Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	Gurrieri sammito bellussi syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702312009 View
702312009	Tarsal-carpal coalition syndrome (disorder)	Tarsal-carpal coalition syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702339001 View
702339001	Spondyloperipheral dysplasia (disorder)	Spondyloperipheral dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702342007 View
702342007	Dolichospondylic dysplasia (disorder)	3m syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702347001 View
702347001	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Nasu-hakola disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
443905007 View
443905007	Developmental dislocation of ankle and/or foot (disorder)	Developmental dislocation of ankle and/or foot	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
398114001 View
398114001	Ehlers-danlos syndrome (disorder)	Cutis elastica	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
389191003 View
389191003	Osteoplastic dysplasia (disorder)	Osteoplastic dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
52781008 View
52781008	Congenital hip dysplasia (disorder)	Dysplasia of acetabulum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
2391001 View
2391001	Achondrogenesis (disorder)	Achondrogenesis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
2884008 View
2884008	Weill-marchesani syndrome (disorder)	Marchesani's syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
19441002 View
19441002	Occipital dysplasia (disorder)	Occipital dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
22764001 View
22764001	Metatropic dysplasia (disorder)	Metatropic dwarf	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23150001 View
23150001	Proteus syndrome (disorder)	Proteus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28681006 View
28681006	Metaphyseal chondrodysplasia (disorder)	Metaphyseal dysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
32985001 View
32985001	Greig cephalopolysyndactyly syndrome (disorder)	Greig cephalopolysyndactyly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
41656005 View
41656005	Leri's pleonosteosis syndrome (disorder)	Leri pleonosteosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
50123005 View
50123005	Beals auriculo-osteodysplasia syndrome (disorder)	Beals auriculo-osteodysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
53974002 View
53974002	Kniest dysplasia (disorder)	Kniest syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
57917004 View
57917004	Seckel syndrome (disorder)	Seckel syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
58561002 View
58561002	Diastrophic dysplasia (disorder)	Diastrophic dwarf	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
59399004 View
59399004	Cutis laxa, x-linked (disorder)	Cutis laxa, x-linked	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
62501005 View
62501005	Chondroectodermal dysplasia (disorder)	Ellis-van creveld syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
62628008 View
62628008	Multiple synostosis syndrome (disorder)	Symphalangism syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
63122002 View
63122002	Hajdu-cheney syndrome (disorder)	Cheney syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
66038001 View
66038001	Miller syndrome (disorder)	Miller syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
71322004 View
71322004	Ehlers-danlos syndrome, familial joint laxity type (disorder)	Familial joint laxity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
73284007 View
73284007	Marshall-smith syndrome (disorder)	Marshall-smith syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78675000 View
78675000	Stickler syndrome (disorder)	Stickler syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
93132001 View
93132001	Lethal kniest-like syndrome (disorder)	Lethal kniest-like syndrome	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
205465004 View
205465004	Chondrodysplasia (disorder)	Chondrodysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205468002 View
205468002	Hypochondroplasia (disorder)	Hypochondroplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205473008 View
205473008	Mesomelic dysplasia (disorder)	Mesomelic dwarf	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254043005 View
254043005	Defects of the tubular (and flat) bones and/or axial skeleton (disorder)	Defects of the tubular (and flat) bones and/or axial skeleton	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254059005 View
254059005	Kniest-stickler dysplasia (disorder)	Kniest-stickler dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254092004 View
254092004	Saldino-mainzer dysplasia (disorder)	Conorenal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254094003 View
254094003	Dysplasias with significant membranous bone involvement (disorder)	Dysplasias with significant membranous bone involvement	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254101001 View
254101001	Osteodysplastic primordial dwarfism (disorder)	Osteodysplastic primordial dwarfism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254124008 View
254124008	Osteosclerosis - stanescu type (disorder)	Osteosclerosis - stanescu type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
278708009 View
278708009	Spondylodysplastic group (disorder)	Spondylodysplastic group	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
278713008 View
278713008	Spondyloepiphyseal dysplasia congenita group (disorder)	Spondyloepiphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
278715001 View
278715001	Chondrodysplasia punctata (stippled epiphyses) group (disorder)	Chondrodysplasia punctata	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
278832007 View
278832007	Bent bone dysplasia group (disorder)	Bent bone dysplasia group	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
279081001 View
279081001	Dysostosis multiplex group (disorder)	Dysostosis multiplex group	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
279082008 View
279082008	Acromesomelic dysplasia group (disorder)	Acromesomelic dwarfism	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 (2abe8ec8-3577-5b1d-8d48-c0e0d35225c2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.9	TRUE	ALWAYS Q78.9	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)\|
ExtendedMap object (7ae913ce-d40e-59fd-9f0e-1a9823da0660) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q79.8	TRUE	ALWAYS Q79.8	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)\|

Terminology chevron_right Concepts chevron_right 105986008

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