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105986008: Congenital skeletal dysplasia (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
170405012 Skeletal dysplasia en Synonym Active Case insensitive SNOMED CT core
2764211017 Congenital skeletal dysplasia en Synonym Active Case insensitive SNOMED CT core
3758347014 Osteochondrodysplasia en Synonym Active Case insensitive SNOMED CT core
3758348016 Osteodysplasia en Synonym Active Case insensitive SNOMED CT core
576961012 Congenital skeletal dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

616 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital skeletal dysplasia Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital skeletal dysplasia Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Congenital skeletal dysplasia Is a Disorder of skeletal system true Inferred relationship Some
Congenital skeletal dysplasia Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Congenital skeletal dysplasia Is a Congenital anomaly false Inferred relationship Some
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Some 1
Congenital skeletal dysplasia Occurrence Congenital false Inferred relationship Some
Congenital skeletal dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Some 1
Congenital skeletal dysplasia Finding site Skeletal system structure true Inferred relationship Some 1
Congenital skeletal dysplasia Occurrence Congenital false Inferred relationship Some 2
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Some 2
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 2
Congenital skeletal dysplasia Occurrence Congenital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Tarsal-carpal coalition syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Developmental hip dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteoarthritis of hip due to dysplasia Due to True Congenital skeletal dysplasia Inferred relationship Some 1
Rhizomelic dysplasia Patterson Lowry type Is a True Congenital skeletal dysplasia Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Heide syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Defects of tubular bones and spine Is a True Congenital skeletal dysplasia Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 Is a True Congenital skeletal dysplasia Inferred relationship Some
Craniofacial conodysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Fountain syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Frank-Ter Haar syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Heart defect and limb shortening syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Caudal dysplasia sequence Is a False Congenital skeletal dysplasia Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Ballard syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteocraniostenosis Is a True Congenital skeletal dysplasia Inferred relationship Some
Terminal osseous dysplasia and pigmentary defect syndrome Is a False Congenital skeletal dysplasia Inferred relationship Some
RHYNS syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Craniolenticulosutural dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Omodysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Mononen Karnes Senac syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Defects of the tubular (and flat) bones and/or axial skeleton Is a True Congenital skeletal dysplasia Inferred relationship Some
Epiphyseal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Brachyrachia (short spine dysplasia) Is a False Congenital skeletal dysplasia Inferred relationship Some
Dysplasias with significant membranous bone involvement Is a True Congenital skeletal dysplasia Inferred relationship Some
Multiple dislocations with dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Osteodysplastic primordial dwarfism Is a True Congenital skeletal dysplasia Inferred relationship Some
Dysplasia with decreased bone density Is a True Congenital skeletal dysplasia Inferred relationship Some
Dysplasia with defective mineralisation Is a True Congenital skeletal dysplasia Inferred relationship Some
Dysplasia with increased bone density Is a True Congenital skeletal dysplasia Inferred relationship Some
Disorganised development of cartilaginous and fibrous components of the skeleton Is a True Congenital skeletal dysplasia Inferred relationship Some
Idiopathic osteolyses Is a False Congenital skeletal dysplasia Inferred relationship Some
Spondyloperipheral dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some
Parietal foramina with clavicular hypoplasia Is a True Congenital skeletal dysplasia Inferred relationship Some
Spondylodysplastic group Is a True Congenital skeletal dysplasia Inferred relationship Some
Short rib dysplasia group (with or without polydactyly) Is a False Congenital skeletal dysplasia Inferred relationship Some
Kniest-Stickler dysplasia group Is a False Congenital skeletal dysplasia Inferred relationship Some
Spondyloepiphyseal dysplasia congenita Is a True Congenital skeletal dysplasia Inferred relationship Some
Chondrodysplasia punctata Is a True Congenital skeletal dysplasia Inferred relationship Some
Bent bone dysplasia group Is a True Congenital skeletal dysplasia Inferred relationship Some
Dysostosis multiplex group Is a True Congenital skeletal dysplasia Inferred relationship Some
Acromesomelic dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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