770629000: syndrome de microdélétion 17p13.1 distale (trouble)

• SNOMED CT Concept\constatation clinique\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 17 (disorder)\Deletion of part of short arm of chromosome 17 (disorder)\Distal 17p13.1 microdeletion syndrome (disorder)
• \anomalie du chromosome 17 (trouble)\Deletion of part of chromosome 17 (disorder)\Deletion of part of short arm of chromosome 17 (disorder)\Distal 17p13.1 microdeletion syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 17 (disorder)\Deletion of part of short arm of chromosome 17 (disorder)\Distal 17p13.1 microdeletion syndrome (disorder)
• \anomalie du chromosome 17 (trouble)\Deletion of part of chromosome 17 (disorder)\Deletion of part of short arm of chromosome 17 (disorder)\Distal 17p13.1 microdeletion syndrome (disorder)

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
3701700017	Distal 17p13.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3701701018	Distal 17p13.1 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
769561000241116	syndrome de microdélétion 17p13.1 distale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
936451000172116	del(17)(p13.1) distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
980061000172118	syndrome de microdélétion 17p13.1 distale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3701702013	A rare chromosomal anomaly syndrome with characteristics of mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

REFERS TO concept association reference set

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