770629000: Distal 17p13.1 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 17\Deletion of part of short arm of chromosome 17\Distal 17p13.1 microdeletion syndrome
• \Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of short arm of chromosome 17\Distal 17p13.1 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 17\Deletion of part of short arm of chromosome 17\Distal 17p13.1 microdeletion syndrome
• \Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of short arm of chromosome 17\Distal 17p13.1 microdeletion syndrome

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3701701018	Distal 17p13.1 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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