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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
83759019 Metabolic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
495639013 Metabolic disorder of bone en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
123721000077118 maladie métabolique de l'os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
123721000077118 maladie métabolique de l'os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

119 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metabolic bone disease (disorder) Is a Disorder of bone and articular cartilage false Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic bone disease (disorder) Is a Metabolic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic bone disease (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Metabolic bone disease (disorder) Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic bone disease (disorder) Finding site Cartilaginous tissue structure false Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic bone disease (disorder) Is a Disorder of bone (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial chondrocalcinosis Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Secondary chondrocalcinosis Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal fluorosis Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disorder with defective osteoid mineralization Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic osteodystrophy Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Morquio syndrome (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphosphatasemia tarda Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteitis fibrosa cystica Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hungry bone syndrome Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypophosphatemic bone disease Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Geroderma osteodysplastica Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis with renal tubular acidosis Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis multiplex group Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
maladie de Hand-Schüller-Christian Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoparathyroidism type I A Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa with osteodystrophy Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myositis ossificans Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with bone disease Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brown tumor of hyperparathyroidism Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic bone disease of prematurity (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
SCARF syndrome Is a False Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nestor Guillermo progeria syndrome (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangic chondrodysplasia punctata (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cutis laxa type 2B Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Stewart-Morel-Morgagni syndrome Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cutis laxa type 2A Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Jarcho-Levin syndrome Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, x-linked Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Desmosterolosis (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Toxic diffuse goiter with acropachy Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked dominant type (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Is a True Metabolic bone disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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