702346005: Chromosome 11p11.2 deletion syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \masse d'une structure corporelle\masse d'une structure musculosquelettique\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
• \Musculoskeletal finding\masse d'une structure musculosquelettique\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer 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\Congenital exostosis\Potocki-Shaffer syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome (disorder)\Potocki-Shaffer syndrome
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome (disorder)\Potocki-Shaffer syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Exostosis (disorder)\Congenital exostosis\Potocki-Shaffer 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\Congenital exostosis\Potocki-Shaffer syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Potocki-Shaffer syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome (disorder)\Potocki-Shaffer syndrome
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome (disorder)\Potocki-Shaffer syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Potocki-Shaffer syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Potocki-Shaffer syndrome

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
2995037013	Proximal 11p deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995170018	Chromosome 11p11.2 deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995658018	P11pDS - proximal 11p deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995935019	Potocki-Shaffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995937010	Chromosome 11p11.2 deletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3788234014	Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).	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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