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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3321486011 Doughnut lesion of calvaria and bone fragility syndrome en Synonym Active Case insensitive SNOMED CT core
3321487019 Calvarial doughnut lesion with bone fragility syndrome en Synonym Active Case insensitive SNOMED CT core
3321488012 Familial doughnut lesions of skull en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Calvarial doughnut lesion with bone fragility syndrome Occurrence Congenital true Inferred relationship Some 1
Calvarial doughnut lesion with bone fragility syndrome Is a Congenital anomaly of skull true Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Occurrence Congenital true Inferred relationship Some 2
Calvarial doughnut lesion with bone fragility syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Calvarial doughnut lesion with bone fragility syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Calvarial doughnut lesion with bone fragility syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 2
Calvarial doughnut lesion with bone fragility syndrome Finding site Structure of vault of skull false Inferred relationship Some 1
Calvarial doughnut lesion with bone fragility syndrome Finding site Bone structure true Inferred relationship Some 2
Calvarial doughnut lesion with bone fragility syndrome Associated morphology Lesion true Inferred relationship Some 1
Calvarial doughnut lesion with bone fragility syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Calvarial doughnut lesion with bone fragility syndrome Interprets Bone density scan true Inferred relationship Some 3
Calvarial doughnut lesion with bone fragility syndrome Has interpretation Below reference range true Inferred relationship Some 3
Calvarial doughnut lesion with bone fragility syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a Congenital anomaly of head false Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Finding site Bone structure of vault of skull true Inferred relationship Some 1
Calvarial doughnut lesion with bone fragility syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a Disorder of skull false Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a Dysplasia with decreased bone density true Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Associated morphology Lesion false Inferred relationship Some 3
Calvarial doughnut lesion with bone fragility syndrome Occurrence Congenital false Inferred relationship Some 3
Calvarial doughnut lesion with bone fragility syndrome Finding site Structure of vault of skull false Inferred relationship Some 3
Calvarial doughnut lesion with bone fragility syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 4
Calvarial doughnut lesion with bone fragility syndrome Occurrence Congenital false Inferred relationship Some 4
Calvarial doughnut lesion with bone fragility syndrome Finding site Bone structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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