764739008: Proximal chromosome 18q deletion 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 18\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Proximal chromosome 18q deletion syndrome
• \Anomaly of chromosome pair 18\Deletion of part of chromosome 18\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Proximal chromosome 18q deletion 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 18\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Proximal chromosome 18q deletion syndrome
• \Anomaly of chromosome pair 18\Deletion of part of chromosome 18\Deletion of long arm of chromosome 18\18q partial monosomy syndrome\Proximal chromosome 18q deletion syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654946017	Proximal chromosome 18q deletion syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3654947014	Proximal chromosome 18q deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3654948016	Proximal 18q deletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3654949012	A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the centre of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent.	en	Definition	Active	Case sensitive	SNOMED CT core
3654950012	A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the center of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent.	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

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