770948004: syndrome rhizomélique type Urbach (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\Rhizomelic syndrome Urbach type

\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\Rhizomelic syndrome Urbach type

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic syndrome Urbach type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\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\Rhizomelic syndrome Urbach type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic syndrome Urbach type

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Rhizomelic syndrome Urbach type
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Rhizomelic syndrome Urbach type
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Rhizomelic syndrome Urbach type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\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\Rhizomelic syndrome Urbach type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic syndrome Urbach type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic syndrome Urbach type
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic syndrome Urbach type
\Disease\trouble du développement\Developmental hereditary disorder\Rhizomelic syndrome Urbach type
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Rhizomelic syndrome Urbach type
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic syndrome Urbach type
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Mesomelic dysplasia\Rhizomelic syndrome Urbach type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3703567013 Rhizomelic syndrome Urbach type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3703568015 Rhizomelic syndrome Urbach type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

770111000241111 syndrome rhizomélique type Urbach (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

941221000172115 syndrome rhizomélique type Urbach fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3703569011 A rare primary bone dysplasia characterised by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalisation of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3703570012 A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. 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
Rhizomelic syndrome Urbach type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Rhizomelic syndrome Urbach type	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Rhizomelic syndrome Urbach type	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Rhizomelic syndrome Urbach type	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Rhizomelic syndrome Urbach type	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Rhizomelic syndrome Urbach type	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	3
Rhizomelic syndrome Urbach type	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Rhizomelic syndrome Urbach type	est un(e) (attribut)	Mesomelic dysplasia	true	Inferred relationship	Some
Rhizomelic syndrome Urbach type	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Rhizomelic syndrome Urbach type	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Rhizomelic syndrome Urbach type	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Rhizomelic syndrome Urbach type	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

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
3703567013	Rhizomelic syndrome Urbach type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3703568015	Rhizomelic syndrome Urbach type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
770111000241111	syndrome rhizomélique type Urbach (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
941221000172115	syndrome rhizomélique type Urbach	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3703569011	A rare primary bone dysplasia characterised by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalisation of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703570012	A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core