83323007: Bone formation, function (observable entity)

SNOMED CT Concept\Observable entity (observable entity)\...

\Clinical history/examination observable (observable entity)\Musculoskeletal observable\Musculoskeletal function\Bone function\Bone formation

\Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions\Musculoskeletal function\Bone function\Bone formation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bone formation	Is a	Bone function	true	Inferred relationship	Some
Bone formation	This attribute specifies the independent continuant which bears the quality, and on which the dependent quality (of this observable) depends.	Structure of musculoskeletal system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Late closure of anterior fontanel	Interprets	False	Bone formation	Inferred relationship	Some	1
Decreased osteoblast function	Interprets	False	Bone formation	Inferred relationship	Some	1
Lack of ossification of exoccipital bone	Interprets	True	Bone formation	Inferred relationship	Some	3
Lack of ossification of palatine bone	Interprets	True	Bone formation	Inferred relationship	Some	3
Lack of ossification of parietal bone	Interprets	True	Bone formation	Inferred relationship	Some	3
Incomplete ossification of interparietal bone	Interprets	True	Bone formation	Inferred relationship	Some	2
Lack of bone formation	Interprets	False	Bone formation	Inferred relationship	Some	2
Lack of ossification of premaxilla	Interprets	True	Bone formation	Inferred relationship	Some	3
Osteoid formation disorder	Interprets	False	Bone formation	Inferred relationship	Some	2
Lack of ossification of presphenoid bone	Interprets	True	Bone formation	Inferred relationship	Some	3
Epiphysis formation disorder	Interprets	False	Bone formation	Inferred relationship	Some	2
Early fontanel closure	Interprets	False	Bone formation	Inferred relationship	Some	1
Functional bone disorder	Interprets	False	Bone formation	Inferred relationship	Some	2
Reduced ossification	Interprets	False	Bone formation	Inferred relationship	Some	1
Late fontanel closure	Interprets	False	Bone formation	Inferred relationship	Some	1
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta type I (disorder)	Interprets	True	Bone formation	Inferred relationship	Some	2
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	Interprets	True	Bone formation	Inferred relationship	Some	3
Osteogenesis imperfecta type III (disorder)	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Interprets	True	Bone formation	Inferred relationship	Some	4
Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta, type IV B	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta with normal sclerae, dominant form	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteoporosis with pseudoglioma	Interprets	True	Bone formation	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.	Interprets	True	Bone formation	Inferred relationship	Some	4
Osteogenesis imperfecta, type IV A	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Interprets	True	Bone formation	Inferred relationship	Some	3
Osteogenesis imperfecta, dominant perinatal lethal	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Interprets	True	Bone formation	Inferred relationship	Some	3
Reduced ossification	Interprets	True	Bone formation	Inferred relationship	Some	1
Craniotabes	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta type 5 (disorder)	Interprets	True	Bone formation	Inferred relationship	Some	2
Osteogenesis imperfecta type IIC presents with varying thickness of the ribs, discontinuous beading of the ribs, malformed scapula and ischia, and long bones with thin shafts and expanded metaphyses. Type IIC is extremely rare. Appearances have been reported in fetuses with mutations in the MESD gene (15q25). The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.	Interprets	True	Bone formation	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
138191014	Bone formation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
138196016	Ossification	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
138197013	Bone development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
138198015	Osteogenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1204939010	Bone formation, function (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2672123016	Bone formation, function	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7117461000241116	ostéogenèse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7117471000241112	développement osseux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7117481000241114	ossification	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7117491000241111	formation osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module