FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

8447006: Congenital anomaly of skeletal bone (disorder)

Status: current, 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
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14943014 Congenital anomaly of skeletal bone, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
14944015 Congenital skeletal anomaly, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14946018 Anomaly of skeletal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
11451001000113 Angeborene Skelettanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11461001000110 Angeborene Knochenanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4416831000241116 anomalie congénitale d'un os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1641 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
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
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale 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 (disorder) 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 anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement 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 Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Aniridia and absent patella syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Juberg Hayward syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Klippel Trenaunay syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital sacral meningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of patella (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Angio-osteohypertrophic syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Van den Bosch syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of bone of shoulder girdle (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Myelomeningocele co-occurrent with hydrocephalus (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Hypoplasia of sacrum (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Aplasia of patella Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hyperphalangy Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Velofacioskeletal syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
White forelock with malformations syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Keipert syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Verloove Vanhorick Brubakk syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Occult spinal dysraphism sequence Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Angioosteohypotrophic syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Lack of ossification of auditory ossicles Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital exostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Choanal atresia with radial ray hypoplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Transitional vertebra (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Ehlers-Danlos syndrome (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hyperphosphatasemia 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) 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 (disorder) 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
Patella dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spondyloepiphyseal dysplasia congenita group (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysplasia with defective mineralization Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) 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 (disorder) Is a False 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 (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) 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
Sclerosing dysplasia of bone, 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 (disorder) 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 (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia (disorder) 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 (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) 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 (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some

Start Previous Page 3 of 5 Next End

This concept is not in any reference sets

Back to Start