719165004: dysplasie spondylo-épimétaphysaire type aggrécane (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia aggrecan type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3315230016 Spondyloepimetaphyseal dysplasia aggrecan type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

753661000241112 dysplasie spondylo-épimétaphysaire type aggrécane (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

880761000172114 dysplasie spondylo-épimétaphysaire type aggrécane fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

961491000172114 SEMD (pondyloepimetaphyseal dysplasia) type aggrécane fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	est un(e) (attribut)	Spondyloepimetaphyseal disorder	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315229014	Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315230016	Spondyloepimetaphyseal dysplasia aggrecan type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753661000241112	dysplasie spondylo-épimétaphysaire type aggrécane (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
880761000172114	dysplasie spondylo-épimétaphysaire type aggrécane	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
961491000172114	SEMD (pondyloepimetaphyseal dysplasia) type aggrécane	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core