726723004: syndrome du chromosome 13 en anneau (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\...
• \Ring chromosome\Ring chromosome 13 syndrome (disorder)
• \Anomaly of chromosome pair\Anomaly of chromosome pair 13\Ring chromosome 13 syndrome (disorder)
• \Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ring chromosome 13 syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Ring chromosome\Ring chromosome 13 syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Ring chromosome 13 syndrome (disorder)
• \trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ring chromosome 13 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1008301000172110	chromosome 13 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3452190018	Ring chromosome 13 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452191019	Ring chromosome 13 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452192014	Ring chromosome 13	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
762381000241112	syndrome du chromosome 13 en anneau (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
970541000172117	syndrome du chromosome 13 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3452193016	A chromosomal anomaly of chromosome 13 with characteristics of a widely variable phenotype ranging from mild to severe. Principle manifestations include intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. up-slanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies and genital abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start