720598005: Doughnut lesion of calvaria and bone fragility syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Skull finding\Disease of skull\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Procedure related finding\Evaluation finding\Imaging finding (finding)\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Bone density below reference range\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Skull finding\Disease of skull\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disease of skull\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disease of skull\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones (disorder)\Congenital anomaly of skull\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321485010	Doughnut lesion of calvaria and bone fragility syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321486011	Doughnut lesion of calvaria and bone fragility syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321487019	Calvarial doughnut lesion with bone fragility syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321488012	Familial doughnut lesions of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402418013	A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402419017	A rare primary bone dysplasia with decreased bone density disorder characterised by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321485010	Doughnut lesion of calvaria and bone fragility syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321485010	Doughnut lesion of calvaria and bone fragility syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321486011	Doughnut lesion of calvaria and bone fragility syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321486011	Doughnut lesion of calvaria and bone fragility syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321487019	Calvarial doughnut lesion with bone fragility syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321487019	Calvarial doughnut lesion with bone fragility syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321488012	Familial doughnut lesions of skull	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321488012	Familial doughnut lesions of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321489016	This syndrome has characteristics of multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. It has been observed in approximately 20 individuals. Clinical manifestations include the presence of cranial lumps, numerous pathologic fractures, elevated serum alkaline phosphatase levels, and dental caries. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402418013	A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402419017	A rare primary bone dysplasia with decreased bone density disorder characterised by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3408041001000110	Doughnut-förmige Läsionen der Schädelkalotte - Knochenfragilität	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094971000241117	lésions familiales en anneau du crâne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094981000241115	syndrome de lésions en anneau de la voute crânienne et fragilité osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094971000241117	lésions familiales en anneau du crâne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094981000241115	syndrome de lésions en anneau de la voute crânienne et fragilité osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408041001000110	Doughnut-förmige Läsionen der Schädelkalotte - Knochenfragilität	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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