254062008: Spondyloepimetaphyseal disorder (disorder)

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

\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

\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
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal 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
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3035816013 Spondyloepimetaphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

378211012 Spondyloepimetaphyseal disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644902011 Spondyloepimetaphyseal disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepimetaphyseal disorder	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	2
Spondyloepimetaphyseal disorder	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Spondyloepimetaphyseal disorder	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Spondyloepimetaphyseal disorder	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloepimetaphyseal disorder	survenue (attribut)	congénital	false	Inferred relationship	Some
Spondyloepimetaphyseal disorder	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Spondyloepimetaphyseal disorder	est un(e) (attribut)	Metaphyseal chondrodysplasia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Bieganski type (disorder)	est un(e) (attribut)	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	est un(e) (attribut)	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
dysplasie spondylo-épimétaphysaire type Geneviève	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Isidor type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Rolland-Debuqois syndrome	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Sponastrime dysplasia (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
dysplasie spondylo-épiphysaire tardive (trouble)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Micromelic spondyloepimetaphyseal dysplasia (disorder)	est un(e) (attribut)	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Smith McCort dysplasia (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Missouri type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Czech dysplasia metatarsal type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Autosomal recessive spondyloepimetaphyseal dysplasia	est un(e) (attribut)	False	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Namaqualand hip dysplasia	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Progressive pseudorheumatoid dysplasia	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Immuno-osseous dysplasia	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Opsismodysplasia	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Handigodu type	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
dysplasie dyssegmentaire type Silverman-Handmaker	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Cono-spondylar dysplasia (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
dysplasie spondylo-épimétaphysaire avec luxations multiples	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	est un(e) (attribut)	True	Spondyloepimetaphyseal disorder	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3035816013	Spondyloepimetaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378211012	Spondyloepimetaphyseal disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644902011	Spondyloepimetaphyseal disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core