109420003: Dysostosis (disorder)

SNOMED CT Concept\constatation clinique\...

Status: current, Not 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
Dysostosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dysostosis	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Dysostosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Dysostosis	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Dysostosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Dysostosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Dysostosis	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Dysostosis	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Dysostosis	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Dysostosis	survenue (attribut)	congénital	false	Inferred relationship	Some
Dysostosis	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Dysostosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Dysostosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Dysostosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1

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

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
173981011	Dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
495711000241115	dysostose (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
611787016	Dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
907271000172119	dysostose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)