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

50279003: Metabolic bone disease (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
495639013 Metabolic disorder of bone en Synonym Active Case insensitive SNOMED CT core
788049018 Metabolic bone disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core
83759019 Metabolic bone disease en Synonym Active Case insensitive SNOMED CT core
83760012 Metabolic bone disease, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core

123 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metabolic bone disease Is a Disorder of bone true Inferred relationship Some
Metabolic bone disease Is a Disorder of bone and articular cartilage false Inferred relationship Some
Metabolic bone disease Is a Metabolic disease true Inferred relationship Some
Metabolic bone disease Finding site Bone structure true Inferred relationship Some 1
Metabolic bone disease Finding site Skeletal system structure false Inferred relationship Some
Metabolic bone disease Finding site Cartilaginous tissue structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Nestor Guillermo progeria syndrome Is a True Metabolic bone disease Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Metabolic bone disease Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Metabolic bone disease Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata Is a True Metabolic bone disease Inferred relationship Some
Autosomal recessive cutis laxa type 2B Is a True Metabolic bone disease Inferred relationship Some
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a True Metabolic bone disease Inferred relationship Some
Stewart-Morel-Morgagni syndrome Is a True Metabolic bone disease Inferred relationship Some
Autosomal recessive cutis laxa type 2A Is a True Metabolic bone disease Inferred relationship Some
Jarcho-Levin syndrome Is a True Metabolic bone disease Inferred relationship Some
Cutis laxa, x-linked Is a True Metabolic bone disease Inferred relationship Some
Desmosterolosis Is a True Metabolic bone disease Inferred relationship Some
Toxic diffuse goitre with acropachy Is a True Metabolic bone disease Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type Is a True Metabolic bone disease Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Metabolic bone disease Inferred relationship Some
Disorder with defective osteoid mineralisation Is a True Metabolic bone disease Inferred relationship Some
Hepatic osteodystrophy Is a True Metabolic bone disease Inferred relationship Some
Ehlers-Danlos syndrome Is a False Metabolic bone disease Inferred relationship Some
Hungry bone syndrome Is a True Metabolic bone disease Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a True Metabolic bone disease Inferred relationship Some
Geroderma osteodysplastica Is a True Metabolic bone disease Inferred relationship Some
Osteopetrosis with renal tubular acidosis Is a True Metabolic bone disease Inferred relationship Some
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Is a False Metabolic bone disease Inferred relationship Some
Dysostosis multiplex group Is a True Metabolic bone disease Inferred relationship Some
Hand-Schüller-Christian disease Is a False Metabolic bone disease Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a True Metabolic bone disease Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Metabolic bone disease Inferred relationship Some
Menkes kinky-hair syndrome Is a True Metabolic bone disease Inferred relationship Some
Cutis laxa with osteodystrophy Is a True Metabolic bone disease Inferred relationship Some
Osteogenesis imperfecta Is a False Metabolic bone disease Inferred relationship Some
Progressive myositis ossificans Is a False Metabolic bone disease Inferred relationship Some
Hyperphosphatasaemia with bone disease Is a True Metabolic bone disease Inferred relationship Some
Morquio syndrome Is a True Metabolic bone disease Inferred relationship Some
Ehlers-Danlos syndrome Is a True Metabolic bone disease Inferred relationship Some
Hyperphosphatasaemia tarda Is a False Metabolic bone disease Inferred relationship Some
Osteitis fibrosa cystica generalisata Is a True Metabolic bone disease Inferred relationship Some
Brown tumour of hyperparathyroidism Is a True Metabolic bone disease Inferred relationship Some
Familial chondrocalcinosis Is a False Metabolic bone disease Inferred relationship Some
Secondary chondrocalcinosis Is a False Metabolic bone disease Inferred relationship Some
Skeletal fluorosis Is a True Metabolic bone disease Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Is a True Metabolic bone disease Inferred relationship Some
Metabolic bone disease of prematurity Is a True Metabolic bone disease Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Is a True Metabolic bone disease Inferred relationship Some
SCARF syndrome Is a False Metabolic bone disease Inferred relationship Some
Craniofaciofrontodigital syndrome Is a True Metabolic bone disease Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a True Metabolic bone disease Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Metabolic bone disease Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start