59708000: Multiple epiphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1231992015 Fairbanks-Ribbing type epiphyseal dysplasia en Synonym Active Case sensitive SNOMED CT core

1231993013 MED - Multiple epiphyseal dysplasia en Synonym Active Case sensitive SNOMED CT core

798580016 Multiple epiphyseal dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

99192010 Multiple epiphyseal dysplasia en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple epiphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Clinical course	Progressive	true	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Multiple epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Multiple epiphyseal dysplasia	Is a	Epiphyseal dysplasia	true	Inferred relationship	Some
Multiple epiphyseal dysplasia	Is a	Spondyloepiphyseal dysplasia tarda	true	Inferred relationship	Some
Multiple epiphyseal dysplasia	Is a	Disorder of epiphysis	false	Inferred relationship	Some
Multiple epiphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Finding site	Structure of epiphysis	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	3
Multiple epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Multiple epiphyseal dysplasia	Finding site	Structure of epiphysis	false	Inferred relationship	Some	3
Multiple epiphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Multiple epiphyseal dysplasia	Finding site	Structure of epiphysis	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple epiphyseal dysplasia tarda type IIIa	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia NOS	Is a	False	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia type 4	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia type 1	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia type 5	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia Al-Gazali type	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Eiken syndrome	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Hip dysplasia Beukes type	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Lowry Wood syndrome	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Wolcott-Rallison dysplasia	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia with miniepiphyses	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Some
Multiple epiphyseal dysplasia Lowry type	Is a	True	Multiple epiphyseal dysplasia	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
1231992015	Fairbanks-Ribbing type epiphyseal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
1231993013	MED - Multiple epiphyseal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
798580016	Multiple epiphyseal dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
99192010	Multiple epiphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core