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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
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
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active 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 Only initial character 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 Only initial character 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 Only initial character 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
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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
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
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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

1821 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 (core metadata concept)
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder) Due to True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Familial articular hypermobility syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bowing of long bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of bone of thorax (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spondylolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)

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