763062006: 2q33.1 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 2\Deletion of part of long arm of chromosome 2\2q33.1 microdeletion syndrome
• \Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of long arm of chromosome 2\2q33.1 microdeletion syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\2q33.1 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 2\Deletion of part of long arm of chromosome 2\2q33.1 microdeletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of long arm of chromosome 2\2q33.1 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\2q33.1 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3637734013	2q33.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3637735014	2q33.1 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3637736010	Monosomy 2q33.1	en	Synonym	Active	Case insensitive	SNOMED CT core
3637737018	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.	en	Definition	Active	Case sensitive	SNOMED CT core
3637738011	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterised by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioural problems (e.g. hyperactivity, chaotic/repetitive behaviour, touch avoidance) are also associated.	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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