719657001: 2q23.1 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\2q23.1 microdeletion syndrome
• \Anomaly of chromosome pair 2\Deletion of part of chromosome 2\Deletion of part of long arm of chromosome 2\2q23.1 microdeletion syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\2q23.1 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\2q23.1 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\2q23.1 microdeletion syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\2q23.1 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317267011	2q23.1 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3317268018	2q23.1 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317269014	Monosomy 2q23.1	en	Synonym	Active	Case insensitive	SNOMED CT core
3317270010	Pseudo-Angelman syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3317271014	The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behavior, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalized brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5.	en	Definition	Active	Case sensitive	SNOMED CT core
3317272019	The newly described syndrome includes severe intellectual deficit with pronounced speech delay, behavioural abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. To date, fifteen patients have been reported. Dysmorphic features include microcephaly, wide and open mouth, a tented upper lip, and prominent incisors. The majority of cases present with stereotypic repetitive behaviour, disturbed sleep pattern and a broad-based gait. Skeletal abnormalities include generalised brachydactyly with small hands and feet. The size of the deletions is variable the critical region includes a single gene, MBD5.	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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