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50279003: Metabolic bone disease (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
123721000077118 maladie métabolique de l'os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
396051000077115 maladie métabolique de l'os (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
495639013 Metabolic disorder of bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788049018 Metabolic bone disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
83759019 Metabolic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

118 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
maladie métabolique de l'os est un(e) (attribut) Disorder of bone (disorder) true Inferred relationship Some
maladie métabolique de l'os est un(e) (attribut) Disorder of bone and articular cartilage false Inferred relationship Some
maladie métabolique de l'os est un(e) (attribut) trouble métabolique true Inferred relationship Some
maladie métabolique de l'os localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
maladie métabolique de l'os localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some
maladie métabolique de l'os localisation d'une constatation (attribut) Cartilaginous tissue structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Nestor Guillermo progeria syndrome (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Temtamy preaxial brachydactyly syndrome est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Autosomal recessive cutis laxa type 2B est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Acroosteolysis, keloid-like lesions, premature ageing syndrome est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Stewart-Morel-Morgagni syndrome (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Autosomal recessive cutis laxa type 2A (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Jarcho-Levin syndrome est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Cutis laxa, x-linked (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Desmosterolosis (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Toxic diffuse goitre with acropachy est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Disorder with defective osteoid mineralisation est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Hepatic osteodystrophy est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Ehlers-Danlos syndrome est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
Hungry bone syndrome est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Geroderma osteodysplastica est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Osteopetrosis with renal tubular acidosis est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
Dysostosis multiplex group est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Hand-Schüller-Christian disease est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
chondrodysplasie ponctuée rhizomélique est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
pseudohypoparathyroïdie type 1A (trouble) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Menkes kinky-hair syndrome (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
cutis laxa avec ostéodystrophie est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Osteogenesis imperfecta est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
Progressive myositis ossificans est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
Hyperphosphatasemia with bone disease est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Morquio syndrome est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Ehlers-Danlos syndrome (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
hyperphosphatasemia tarda est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
Osteitis fibrosa cystica est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Brown tumor of hyperparathyroidism est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Familial chondrocalcinosis est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
Secondary chondrocalcinosis est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
fluorose squelettique est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Metabolic bone disease of prematurity (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
SCARF syndrome est un(e) (attribut) False maladie métabolique de l'os Inferred relationship Some
Craniofaciofrontodigital syndrome (disorder) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome est un(e) (attribut) True maladie métabolique de l'os Inferred relationship Some

This concept is not in any reference sets

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