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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

99192010 Multiple epiphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
798580016 Multiple epiphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1231992015 Fairbanks-Ribbing type epiphyseal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module
1231993013 MED - Multiple epiphyseal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Wolcott-Rallison dysplasia	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia tarda type IIIa	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia NOS	Is a	False	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia type 4	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia type 1	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia type 5	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia Al-Gazali type	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia Beighton type	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Eiken syndrome	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Hip dysplasia Beukes type	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia with miniepiphyses	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia Lowry type	Is a	True	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier
Multiple epiphyseal dysplasia NOS	Is a	False	Multiple epiphyseal dysplasia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
99192010	Multiple epiphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
798580016	Multiple epiphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1231992015	Fairbanks-Ribbing type epiphyseal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
1231993013	MED - Multiple epiphyseal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module