22567005: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (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\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

\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\Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

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

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
37882012	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
37883019	SED syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
37884013	Pseudoachondroplastic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
481375013	Pseudoachondroplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
751989010	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core