702345009: Ring chromosome 14 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 14 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 14\Ring chromosome 14 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 14 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 14 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Ring chromosome 14 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 14 syndrome

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995389010	Ring chromosome 14 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2995489011	Ring chromosome 14	en	Synonym	Active	Case insensitive	SNOMED CT core
2995651012	Ring chromosome 14 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
2995728019	Ring 14 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4212350015	Disease with characteristics of by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck and large low set ears.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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