105986008: Congenital skeletal dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Disorder of skeletal system\Skeletal dysplasia

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Skeletal dysplasia	Is a	Disorder of skeletal system	true	Inferred relationship	Some
Skeletal dysplasia	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Skeletal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Skeletal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Skeletal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Skeletal dysplasia	Is a	Congenital malformation	false	Inferred relationship	Some
Skeletal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Skeletal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Skeletal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Skeletal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Skeletal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Skeletal dysplasia	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypochondroplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Mesomelic dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Dysostosis	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Defects of the tubular (and flat) bones and/or axial skeleton	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Epiphyseal dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
brakyraki (kort rygg-dysplasi)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Dysplasias with significant membranous bone involvement	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Multiple dislocations with dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteodysplastic primordial dwarfism	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Dysplasia with decreased bone density	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Dysplasia with defective mineralization	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Dysplasia with increased bone density (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Disorganized development of cartilaginous and fibrous components of the skeleton	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Idiopathic osteolyses	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Spondylodysplastic group	Is a	True	Skeletal dysplasia	Inferred relationship	Some
dysplasigrupp med korta revben, med eller utan polydaktyli	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Kniest-Sticklers dysplasigrupp	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Spondyloepiphyseal dysplasia congenita group (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Chondrodysplasia punctata	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Bent bone dysplasia group	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Dysostosis multiplex group	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Acromesomelic dysplasia syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Chondrodysplasia punctata congenita	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Nail-patella syndrome	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Metatropic dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Ehlers-Danlos syndrome	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Achondrogenesis	Is a	True	Skeletal dysplasia	Inferred relationship	Some
enostos	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Ectopic bone tissue, congenital	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Metaphyseal chondrodysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Weill-Marchesani syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Greig cephalopolysyndactyly syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
medfödd spondyloepifyseal dysplasi	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Leri's pleonosteosis syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Atelosteogenesis	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Beals auriculo-osteodysplasia syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Multiple synostosis syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Antley-Bixler syndrome	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Accessory ossification center	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Brachydactyly syndrome type E	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Miller syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Baller-Gerold syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Chondrodysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
osteodysplasi	Is a	False	Skeletal dysplasia	Inferred relationship	Some
symfalangi-brakydaktylisyndrom	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Congenital hip dysplasia	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Osteoplastic dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Ehlers-Danlos syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Diaphyseal dysplasia	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Vitamin D-dependent rickets, type 1	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Vitamin D-dependent rickets, type 2 (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Progressive myositis ossificans	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Kyphosis in skeletal dysplasia (disorder)	Associated with	True	Skeletal dysplasia	Inferred relationship	Some	2
Ghosal hematodiaphyseal dysplasia	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Diaphyseal dysplasia	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Chondroectodermal dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Cherubism with gingival fibromatosis (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Hajdu-Cheney syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Scoliosis in skeletal dysplasia	Associated with	True	Skeletal dysplasia	Inferred relationship	Some	2
lordos vid skelettdysplasi	Associated with	False	Skeletal dysplasia	Inferred relationship	Some	2
3-M syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Tarsal-carpal coalition syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Congenital hip dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteoarthritis of hip due to dysplasia (disorder)	Due to	True	Skeletal dysplasia	Inferred relationship	Some	1
Rhizomelic dysplasia of Patterson Lowry type (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Heide syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Defects of tubular bones and spine (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Camptodactyly syndrome Guadalajara type 2 (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Craniofacial conodysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Angel-shaped phalangoepiphyseal dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Heart defect and limb shortening syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Caudal regression syndrome	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Ballard syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteocraniostenosis (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Craniolenticulosutural dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Omodysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Parietal foramina with clavicular hypoplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Ehlers-Danlos syndrom med periventrikulär heterotopi	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Ehlers-Danlos syndrome cardiac valvular type (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Ehlers-Danlos syndrom, vaskulärliknande typ	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Brittle cornea syndrome (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Holoprosencephaly with caudal dysgenesis syndrome (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
170405012	Skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
576961012	Congenital skeletal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2764211017	Congenital skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758347014	Osteochondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758348016	Osteodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1945551000052116	skelettdysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)