34643004: Diaphyseal dysplasia (disorder)

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

\Finding by site\Finding of body region\Diaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Diaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\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\Diaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Diaphyseal dysplasia
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Diaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Diaphyseal dysplasia
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia

\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Diaphyseal dysplasia
\Disease\Disorder by body site (disorder)\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\Diaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Diaphyseal dysplasia
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Diaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Diaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
57824015	Diaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
57825019	Engelmann's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
57826018	Diaphyseal sclerosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
57827010	Osteopathia hyperostotica multiplex infantis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
485906010	Engelmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
485907018	Engelman's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
485908011	Camurati-Engelmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
766191016	Diaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1953821000052110	diafyseal dysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diaphyseal dysplasia	Is a	Disorder of bone and articular cartilage	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Osteochondrodysplasia syndrome	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Dysplasia with increased bone density (disorder)	false	Inferred relationship	Some
Diaphyseal dysplasia	Finding site	Structure of diaphysis (body structure)	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Finding site	broskvävnad, struktur	false	Inferred relationship	Some
Diaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Diaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Diaphyseal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Skeletal dysplasia	false	Inferred relationship	Some
Diaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital malformation	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Diaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Diaphyseal dysplasia	Finding site	Structure of diaphysis (body structure)	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Diaphyseal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Diaphyseal dysplasia	Finding site	Structure of diaphysis (body structure)	false	Inferred relationship	Some	2
Diaphyseal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Diaphyseal dysplasia	Finding site	Structure of diaphysis (body structure)	true	Inferred relationship	Some	1
Diaphyseal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Diaphyseal dysplasia	Is a	Finding of body region	true	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Diaphyseal dysplasia with anemia (disorder)	Is a	True	Diaphyseal dysplasia	Inferred relationship	Some
Progressive diaphyseal dysplasia	Is a	True	Diaphyseal dysplasia	Inferred relationship	Some

This concept is not in any reference sets

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