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

SNOMED CT Concept\Clinical finding (finding)\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Doughnut lesion of calvaria and bone fragility syndrome (disorder)

\General finding of observation of patient\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\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\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\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\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\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)\Congenital anomaly of head\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Disease\Congenital disease (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\Congenital disease (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)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Doughnut lesion of calvaria and bone fragility syndrome (disorder)
\Disease\Developmental 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\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

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

3898781000052118 syndrom med ringformig lesion i kalvariet och benskörhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

4047231000052116 syndrom med ringformig lesion i skalltaket och benskörhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	Disorder of skull (disorder)	false	Inferred relationship	Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Associated morphology	Lesion (morphologic abnormality)	false	Inferred relationship	Some	3
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Finding site	Structure of vault of skull (body structure)	false	Inferred relationship	Some	3
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	4
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	4
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Finding site	Structure of vault of skull (body structure)	true	Inferred relationship	Some	1
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Associated morphology	Lesion (morphologic abnormality)	true	Inferred relationship	Some	1
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	3
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	Congenital anomaly of head	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
3898781000052118	syndrom med ringformig lesion i kalvariet och benskörhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
4047231000052116	syndrom med ringformig lesion i skalltaket och benskörhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)