763527007: Distal monosomy 13q 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\...
• \Distal deletion of chromosome 13\Distal monosomy 13q syndrome
• \Deletion of long arm of chromosome 13\Distal monosomy 13q syndrome
• \Anomaly of chromosome pair 13\Deletion of part of chromosome 13\...
• \Distal deletion of chromosome 13\Distal monosomy 13q syndrome
• \Deletion of long arm of chromosome 13\Distal monosomy 13q syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 13q 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\Distal deletion of chromosome 13\Distal monosomy 13q 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\Distal monosomy 13q syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Deletion of part of chromosome 13\Distal deletion of chromosome 13\Distal monosomy 13q 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\Distal monosomy 13q syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 13q syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642735016	Distal monosomy 13q	en	Synonym	Active	Case insensitive	SNOMED CT core
3642737012	Distal monosomy 13q syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3642738019	Distal monosomy 13q syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3642739010	13q32 deletion	en	Synonym	Active	Case insensitive	SNOMED CT core
3642740012	Distal 13q deletion	en	Synonym	Active	Case insensitive	SNOMED CT core
3642741011	A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 13. The syndrome has a highly variable phenotype and typical characteristics of varying degrees of intellectual disability and developmental delay, as well as central nervous system malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been 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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