719165004: Spondyloepimetaphyseal dysplasia aggrecan 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 aggrecan 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 aggrecan type

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

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

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3315229014 Spondyloepimetaphyseal dysplasia aggrecan type (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3315230016 Spondyloepimetaphyseal dysplasia aggrecan type en Synonym Active Case insensitive SNOMED CT core

3315231017 A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315229014	Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3315230016	Spondyloepimetaphyseal dysplasia aggrecan type	en	Synonym	Active	Case insensitive	SNOMED CT core
3315231017	A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core