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254117007: Dysplasia with defective mineralization (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation

Status: current, Defined. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378281019 Dysplasia with defective mineralization en Synonym Active Case insensitive SNOMED CT core

378282014 Dysplasia with defective mineralisation en Synonym Active Case insensitive SNOMED CT core

644965011 Dysplasia with defective mineralization (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysplasia with defective mineralisation	Occurrence	Congenital	true	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Dysplasia with defective mineralisation	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Dysplasia with defective mineralisation	Associated morphology	Impaired mineralisation	true	Inferred relationship	Some	2
Dysplasia with defective mineralisation	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Finding site	Bone structure	false	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Occurrence	Congenital	true	Inferred relationship	Some	2
Dysplasia with defective mineralisation	Finding site	Bone structure	true	Inferred relationship	Some	2
Dysplasia with defective mineralisation	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Dysplasia with defective mineralisation	Finding site	Bone structure	true	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Occurrence	Congenital	false	Inferred relationship	Some
Dysplasia with defective mineralisation	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Dysplasia with defective mineralisation	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oculocerebrodental syndrome	Is a	True	Dysplasia with defective mineralisation	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	True	Dysplasia with defective mineralisation	Inferred relationship	Some
Familial x-linked hypophosphataemic vitamin D refractory rickets	Is a	True	Dysplasia with defective mineralisation	Inferred relationship	Some
Ossification anomaly with psychomotor developmental delay syndrome	Is a	True	Dysplasia with defective mineralisation	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
378281019	Dysplasia with defective mineralization	en	Synonym	Active	Case insensitive	SNOMED CT core
378282014	Dysplasia with defective mineralisation	en	Synonym	Active	Case insensitive	SNOMED CT core
644965011	Dysplasia with defective mineralization (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core