766716004: Monosomy 13q34 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 13q34
• \Anomaly of chromosome pair 13\Deletion of part of chromosome 13\Deletion of long arm of chromosome 13\Monosomy 13q34
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 13q34
• \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 13q34
• \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 13q34
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Monosomy 13q34

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662371014	Monosomy 13q34	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3662373012	Subtelomeric deletion 13q34	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3662374018	Distal deletion 13q34	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4590294016	Monosomy 13q34 syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4590295015	Monosomy 13q34 syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3662375017	A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 13. Principle characteristics are global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (for example polydactyly) and agenesis of the corpus callosum.	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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