719166003: Spondyloepimetaphyseal dysplasia matrilin-3 type (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\Spondyloepimetaphyseal dysplasia matrilin-3 type

\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\Spondyloepimetaphyseal dysplasia matrilin-3 type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\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\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\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\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia matrilin-3 type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3315232012 Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3315233019 Spondyloepimetaphyseal dysplasia matrilin-3 type en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal dysplasia matrilin-3 type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia matrilin-3 type	Is a	Spondyloepimetaphyseal disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia matrilin-3 type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia matrilin-3 type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia matrilin-3 type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia matrilin-3 type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia matrilin-3 type	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Spondyloepimetaphyseal dysplasia matrilin-3 type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia matrilin-3 type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia matrilin-3 type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia matrilin-3 type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia matrilin-3 type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia matrilin-3 type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepimetaphyseal dysplasia matrilin-3 type	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3315232012	Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3315233019	Spondyloepimetaphyseal dysplasia matrilin-3 type	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module