702829000: syndrome de cassure chromosomique de Varsovie (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de cassure chromosomique de Varsovie
• \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\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de cassure chromosomique de Varsovie
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome de cassure chromosomique de Varsovie
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome de cassure chromosomique de Varsovie
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de cassure chromosomique de Varsovie
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de cassure chromosomique de Varsovie
• \Disease\trouble du développement\Developmental hereditary disorder\syndrome de cassure chromosomique de Varsovie
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de cassure chromosomique de Varsovie
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de cassure chromosomique de Varsovie
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de cassure chromosomique de Varsovie

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1001011000172115	syndrome de cassure chromosomique de Varsovie	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3006245012	Warsaw breakage syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3006264018	Warsaw breakage syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
733311000241118	syndrome de cassure chromosomique de Varsovie (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
877051000172119	WABS - Warsaw breakage syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3006274015	A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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