770410004: Distal monosomy 14q 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 14\Partial deletion of long arm of chromosome 14\Distal monosomy 14q syndrome
• \Anomaly of chromosome pair 14\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14\Distal monosomy 14q syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 14q 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 14\Partial deletion of long arm of chromosome 14\Distal monosomy 14q syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14\Distal monosomy 14q syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 14q syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3700737016	Distal deletion 14q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3700738014	Telomeric deletion 14q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3700739018	Distal monosomy 14q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4564301019	Distal monosomy 14q syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4564302014	Distal monosomy 14q syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3700741017	A rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and ophthalmological anomalies were also reported.	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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