719204007: dysplasie spondylo-épiphysaire type Maroteaux (trouble)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire type Maroteaux
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\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\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\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\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\trouble du développement\Developmental hereditary disorder\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\dysplasie spondylo-épiphysaire type Maroteaux

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

1017771000172118 dysplasie spondylo-épiphysaire type Maroteaux fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3315408015 Spondyloepiphyseal dysplasia Maroteaux type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3315409011 Spondyloepiphyseal dysplasia Maroteaux type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3315411019 Pseudo-Morquio syndrome type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

753721000241110 dysplasie spondylo-épiphysaire type Maroteaux (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

883441000172113 syndrome pseudo-Morquio type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3315410018 A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. 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
dysplasie spondylo-épiphysaire type Maroteaux	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
dysplasie spondylo-épiphysaire type Maroteaux	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
dysplasie spondylo-épiphysaire type Maroteaux	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
dysplasie spondylo-épiphysaire type Maroteaux	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
dysplasie spondylo-épiphysaire type Maroteaux	est un(e) (attribut)	Spondyloepiphyseal dysplasia congenita	true	Inferred relationship	Some
dysplasie spondylo-épiphysaire type Maroteaux	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
dysplasie spondylo-épiphysaire type Maroteaux	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
dysplasie spondylo-épiphysaire type Maroteaux	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
dysplasie spondylo-épiphysaire type Maroteaux	survenue (attribut)	congénital	true	Inferred relationship	Some	1
dysplasie spondylo-épiphysaire type Maroteaux	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1017771000172118	dysplasie spondylo-épiphysaire type Maroteaux	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315408015	Spondyloepiphyseal dysplasia Maroteaux type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315409011	Spondyloepiphyseal dysplasia Maroteaux type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3315411019	Pseudo-Morquio syndrome type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
753721000241110	dysplasie spondylo-épiphysaire type Maroteaux (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
883441000172113	syndrome pseudo-Morquio type 2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3315410018	A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date with clinical characteristics of dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core