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8447006: Congenital anomaly of skeletal bone (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
14942016 Congenital anomaly of skeletal bone en Synonym Active Case insensitive SNOMED CT core
14943014 Congenital anomaly of skeletal bone, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
14944015 Congenital skeletal anomaly, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym Active Case insensitive SNOMED CT core
14946018 Anomaly of skeletal development en Synonym Active Case insensitive SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym Active Case insensitive SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1631 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Disorder of bone false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Some
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Some
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology Developmental abnormality false Inferred relationship Some 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
DOORS syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dentin dysplasia with sclerotic bone syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Autosomal recessive distal osteolysis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Global developmental delay, osteopenia, ectodermal defect syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Ehlers-Danlos syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Incomplete ossification Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Achondrogenesis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital negative ulnar variant of wrist Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of vertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital positive ulnar variant of wrist Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital pseudoarthrosis of limb Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hyperphosphatasaemia with bone disease Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Pyknoachondrogenesis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Rhizomelic dysplasia Patterson Lowry type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Fountain syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Carpal-tarsal osteolysis with nephropathy Is a True Congenital anomaly of skeletal bone Inferred relationship Some
McCune Albright syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Multiple congenital exostosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Pachydermoperiostosis - familial Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dysplasia of patella Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spondyloepiphyseal dysplasia congenita Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplasia with defective mineralisation Is a True Congenital anomaly of skeletal bone Inferred relationship Some
RHYNS syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteodysplastic primordial dwarfism Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Omodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylodysplastic group Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteopathia striata Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Metatropic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Chondrodysplasia punctata Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Pseudochondroplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Enchondromatosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplasias with significant membranous bone involvement Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysostosis multiplex group Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Achondrogenesis, type IB Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Winchester syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Pyle metaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Defects of tubular bones and spine Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Multiple synostosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Short rib dysplasia group (with or without polydactyly) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Cherubism with gingival fibromatosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Acromesomelic dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondyloperipheral dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Beals auriculo-osteodysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Torg type osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteocraniostenosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Heart defect and limb shortening syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplastic cortical hyperostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplasia with decreased bone density Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Weill-Marchesani syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hajdu-Cheney syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Familial expansile osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Bent bone dysplasia group Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Craniodiaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Mononen Karnes Senac syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Heide syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Genochondromatosis type 2 Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Melorheostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Chondroectodermal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Holoprosencephaly with caudal dysgenesis syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Metaphyseal chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest-Stickler dysplasia group Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Frank-Ter Haar syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Leri's pleonosteosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Multicentric carpotarsal osteolysis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Diaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Greig cephalopolysyndactyly syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Idiopathic multicentric osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis - Stanescu type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Craniometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteopoikilosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Ballard syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Achondrogenesis, type IA Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysosteosclerosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Grant syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Epiphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hypochondroplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Short stature Brussels type Is a True Congenital anomaly of skeletal bone 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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