770566002: Monosomy 13q14 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 13\Deletion of long arm of chromosome 13\Monosomy 13q14 syndrome
• \Anomaly of chromosome pair 13\Deletion of part of chromosome 13\Deletion of long arm of chromosome 13\Monosomy 13q14 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 13q14 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 13\Deletion of long arm of chromosome 13\Monosomy 13q14 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Deletion of part of chromosome 13\Deletion of long arm of chromosome 13\Monosomy 13q14 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 13q14 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701297012	Monosomy 13q14 syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701298019	Monosomy 13q14 syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3701299010	Deletion 13q14	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701300019	Monosomy 13q14	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701301015	A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has characteristics of developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.	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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