254080004: Epiphyseal dysplasia (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia

\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia
\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\Epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378233014 Epiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644922010 Epiphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5081681000241110 dysplasie épiphysaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epiphyseal dysplasia	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Epiphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Epiphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Epiphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Epiphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Epiphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Epiphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Epiphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Epiphyseal dysplasia	Is a	Disorder of epiphysis	true	Inferred relationship	Some
Epiphyseal dysplasia	Finding site	Structure of epiphysis	true	Inferred relationship	Some	1
Epiphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Epiphyseal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Epiphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Epiphyseal dysplasia	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Epiphyseal dysplasia	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple epiphyseal dysplasia	Is a	True	Epiphyseal dysplasia	Inferred relationship	Some
Dysplasia of head of femur Meyer type (disorder)	Is a	True	Epiphyseal dysplasia	Inferred relationship	Some
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Is a	True	Epiphyseal dysplasia	Inferred relationship	Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Is a	True	Epiphyseal dysplasia	Inferred relationship	Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)	Is a	True	Epiphyseal dysplasia	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

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Id	Description	Lang	Type	Status	Case?	Module
378233014	Epiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644922010	Epiphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081681000241110	dysplasie épiphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module