FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

8447006: Congenital anomaly of skeletal bone (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
14942016 Congenital anomaly of skeletal bone en Synonym Active Entire term case insensitive SNOMED CT core module
14945019 Congenital skeletal anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
14946018 Anomaly of skeletal development en Synonym Active Entire term case insensitive SNOMED CT core module
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3006510017 Congenital malformation of skeletal bone en Synonym Active Entire term case insensitive SNOMED CT core module

1632 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 Existential restriction modifier
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Is a Disorder of bone false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Existential restriction modifier
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skeletal bone Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Aniridia and absent patella syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Juberg Hayward syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Puerto Rican infant hypotonia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Klippel Trenaunay syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital sacral meningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital hypoplasia of patella Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Angio-osteohypertrophic syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Van den Bosch syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital anomaly of bone of shoulder girdle Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Myelomeningocele co-occurrent with hydrocephalus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Hypoplasia of sacrum Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Aplasia of patella Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Cerebrofacioarticular syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Supernumerary phalanx Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Velofacioskeletal syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
White forelock with malformations syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Keipert syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Verloove Vanhorick Brubakk syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Occult spinal dysraphism sequence Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Angio-osteohypotrophic syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital lack of ossification of auditory ossicles Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital sacral meningocele with conotruncal heart defect syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital exostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Choanal atresia with radial ray hypoplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Transitional vertebra Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dentin dysplasia with sclerotic bone syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Autosomal recessive distal osteolysis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Global developmental delay, osteopenia, ectodermal defect syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Incomplete ossification of bone Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Camptodactyly syndrome Guadalajara type 2 Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Achondrogenesis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital absence of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital negative ulnar variant of wrist Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital absence of vertebra Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital positive ulnar variant of wrist Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital pseudoarthrosis of limb Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Hyperphosphatasemia with bone disease Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dysostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Pyknoachondrogenesis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Rhizomelic dysplasia of Patterson Lowry type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Carpal-tarsal osteolysis with nephropathy Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
McCune Albright syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Multiple congenital exostosis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Pachydermoperiostosis - familial Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Congenital dysplasia of patella Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia congenita group Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dysplasia with defective mineralization Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteodysplastic primordial dwarfism Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Omodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondylodysplastic group Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteopathia striata Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Metatropic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Chondrodysplasia punctata Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Metaphyseal dysplasia Braun Tinschert type Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Pseudochondroplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Microspherophakia with metaphyseal dysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Enchondromatosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dysplasias with significant membranous bone involvement Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dysostosis multiplex group Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Achondrogenesis, type IB Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Winchester syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Pyle metaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Defects of tubular bones and spine Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Multiple synostosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Short rib dysplasia group (with or without polydactyly) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Cherubism with gingival fibromatosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Angel-shaped phalangoepiphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Acromesomelic dysplasia group Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Spondyloperipheral dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Beals auriculo-osteodysplasia syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Torg type osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteocraniostenosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Heart defect and limb shortening syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Osteosclerosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dysplastic cortical hyperostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Dysplasia with decreased bone density Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Weill-Marchesani syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Hajdu-Cheney syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier
Chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier

Start Previous Page 3 of 5 Next End

This concept is not in any reference sets

Back to Start