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109420003: Dysostosis (disorder)

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

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
173981011	Dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
611787016	Dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1984181000052110	dysostos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fronto-frontal dysostosis	Is a	False	Dysostosis	Inferred relationship	Some
Fronto-naso-ethmoidal dysostosis (disorder)	Is a	False	Dysostosis	Inferred relationship	Some
Spheno-frontal dysostosis	Is a	False	Dysostosis	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	True	Dysostosis	Inferred relationship	Some
Dysostosis of bone of skull	Is a	True	Dysostosis	Inferred relationship	Some
Acrodysostosis	Is a	True	Dysostosis	Inferred relationship	Some
Ischio-vertebral syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Autosomal dominant spondylocostal dysostosis (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Progressive non-infectious anterior vertebral fusion (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Pelvis shoulder dysplasia (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Pelviscapular dysplasia	Is a	True	Dysostosis	Inferred relationship	Some
X-linked mandibulofacial dysostosis (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Acropectorovertebral dysplasia (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Acrofacial dysostosis Catania type (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Acrofacial dysostosis Kennedy Teebi type (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Acrofacial dysostosis Palagonia type (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Acrofacial dysostosis Rodriguez type (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Cerebro-facio-thoracic dysplasia (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Coxopodopatellar syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Filippi syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Holt-Oram syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Heart-hand syndrome type 2 (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Heart-hand syndrome type 3 (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Heart-hand syndrome Slovenian type (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Postaxial polydactyly and intellectual disability syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Aplasia of fibula and ectrodactyly syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Karsch Neugebauer syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Oculootoradial syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Fuhrmann syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Melhem Fahl syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Long thumb brachydactyly syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Bipartite talus (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Carney complex, trismus, pseudocamptodactyly syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Tetramelic monodactyly	Is a	True	Dysostosis	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	True	Dysostosis	Inferred relationship	Some
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Hallux varus, preaxial polysyndactyly syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Teebi Shaltout syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Thrombocythemia with distal limb defect (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Acrodysplasia scoliosis (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Naso-maxillary dysostosis	Is a	False	Dysostosis	Inferred relationship	Some
Peripheral dysostosis (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Temtamy preaxial brachydactyly syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Pelvic dysplasia, arthrogryposis of lower limbs syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Radial deficiency, tibial hypoplasia syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Syndactyly, polydactyly, ear lobe syndrome (disorder)	Is a	True	Dysostosis	Inferred relationship	Some
Nail-patella syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Jarcho-Levin syndrome	Is a	True	Dysostosis	Inferred relationship	Some
Klippel-Feil sequence	Is a	True	Dysostosis	Inferred relationship	Some
Cerebro-costo-mandibular syndrome	Is a	True	Dysostosis	Inferred relationship	Some

Reference Sets

GB English

US English

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