715652002: dysplasie mésomélique type Savarirayan (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan 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\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Mesomelic dysplasia Savarirayan type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303299010 Mesomelic dysplasia Savarirayan type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303300019 Mesomelic dysplasia Savarirayan type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303301015 Mesomelic dysplasia with absent fibula and triangular tibia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

748181000241118 dysplasie mésomélique type Savarirayan (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

877701000172115 dysplasie mésomélique avec absence de fibula et tibias triangulaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

927231000172114 dysplasie mésomélique type Savarirayan fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3303302010 Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported. 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
Mesomelic dysplasia Savarirayan type (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	localisation d'une constatation (attribut)	Skeletal system structure	true	Inferred relationship	Some	1
Mesomelic dysplasia Savarirayan type (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan type (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
Mesomelic dysplasia Savarirayan type (disorder)	est un(e) (attribut)	Mesomelic dysplasia	true	Inferred relationship	Some
Mesomelic dysplasia Savarirayan type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan type (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Mesomelic dysplasia Savarirayan 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
3303299010	Mesomelic dysplasia Savarirayan type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303300019	Mesomelic dysplasia Savarirayan type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303301015	Mesomelic dysplasia with absent fibula and triangular tibia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
748181000241118	dysplasie mésomélique type Savarirayan (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
877701000172115	dysplasie mésomélique avec absence de fibula et tibias triangulaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
927231000172114	dysplasie mésomélique type Savarirayan	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3303302010	Severely hypoplastic and triangular-shaped tibiae and absence of the fibulae.Two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia also reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core