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105986008: Congenital skeletal dysplasia (disorder)

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

Descriptions:

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

616 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital skeletal dysplasia Is a Disorder of skeletal system true Inferred relationship Existential restriction modifier
Congenital skeletal dysplasia Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier
Congenital skeletal dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital skeletal dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Finding site Skeletal system structure true Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Is a Congenital malformation false Inferred relationship Existential restriction modifier
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier 2
Congenital skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Congenital skeletal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital skeletal dysplasia Is a Congenital anomaly of musculoskeletal system true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypochondroplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Mesomelic dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Dysostosis Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Defects of the tubular (and flat) bones and/or axial skeleton Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Epiphyseal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Brachyrachia (short spine dysplasia) Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Dysplasias with significant membranous bone involvement Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Multiple dislocations with dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteodysplastic primordial dwarfism Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Dysplasia with decreased bone density Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Dysplasia with defective mineralization Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Dysplasia with increased bone density Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Disorganized development of cartilaginous and fibrous components of the skeleton Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Idiopathic osteolyses Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Spondylodysplastic group Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Short rib dysplasia group (with or without polydactyly) Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Kniest-Stickler dysplasia group Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia congenita group Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Chondrodysplasia punctata Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Bent bone dysplasia group Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Dysostosis multiplex group Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Acromesomelic dysplasia group Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Chondrodysplasia punctata congenita Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Nail-patella syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Metatropic dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Achondrogenesis Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Bone island Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Disorder: ectopic bone tissue, congenital Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Weill-Marchesani syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Greig cephalopolysyndactyly syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia congenita Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Leri's pleonosteosis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Atelosteogenesis Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteochondrodysplasia with osteopetrosis Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Beals auriculo-osteodysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Multiple synostosis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Antley-Bixler syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Accessory ossification center Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Brachydactyly syndrome type E Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Miller syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Baller-Gerold syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Chondrodysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteodysplasia Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Symphalangism-brachydactyly syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Congenital hip dysplasia Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteoplastic dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ghosal hematodiaphyseal dysplasia Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Diaphyseal dysplasia Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Vitamin D-dependent rickets, type 1 Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Vitamin D-dependent rickets, type 2 Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Progressive myositis ossificans Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Kyphosis in skeletal dysplasia Associated with True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier 2
Ghosal hematodiaphyseal dysplasia Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Diaphyseal dysplasia Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Chondroectodermal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Cherubism with gingival fibromatosis Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Hajdu-Cheney syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Scoliosis in skeletal dysplasia Associated with True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier 2
Lordosis in skeletal dysplasia Associated with False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier 2
Dolichospondylic dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Tarsal-carpal coalition syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Congenital hip dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteoarthritis of hip due to dysplasia Due to True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier 1
Rhizomelic dysplasia of Patterson Lowry type Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Defects of tubular bones and spine Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Camptodactyly syndrome Guadalajara type 2 Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Craniofacial conodysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Frank-Ter Haar syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Heart defect and limb shortening syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Caudal regression syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Lipodystrophy, intellectual disability, deafness syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ballard syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Osteocraniostenosis Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Terminal osseous dysplasia and pigmentary defect syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Microspherophakia with metaphyseal dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Craniolenticulosutural dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Omodysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Spondyloperipheral dysplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Parietal foramina with clavicular hypoplasia Is a True Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome cardiac valvular type Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome musculocontractural type Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome vascular-like type Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Brittle cornea syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier
Holoprosencephaly with caudal dysgenesis syndrome Is a False Congenital skeletal dysplasia Inferred relationship Existential restriction modifier

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