766717008: Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder)

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

\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\Multiple epiphyseal dysplasia due to collagen 9 anomaly

\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\Multiple epiphyseal dysplasia due to collagen 9 anomaly

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\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\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\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\Multiple epiphyseal dysplasia due to collagen 9 anomaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\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\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\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\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\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\Multiple epiphyseal dysplasia due to collagen 9 anomaly
\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\Multiple epiphyseal dysplasia due to collagen 9 anomaly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3662376016 Multiple epiphyseal dysplasia due to collagen 9 anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662377013 Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404629018 Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404630011 Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterised by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Is a	Multiple epiphyseal dysplasia	true	Inferred relationship	Some
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Finding site	Structure of epiphysis	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Interprets	Height / growth measure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3662376016	Multiple epiphyseal dysplasia due to collagen 9 anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662377013	Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404629018	Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404630011	Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterised by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core