763529005: Distal monosomy 7q36 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 7\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal monosomy 7q36
• \Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal monosomy 7q36
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 7q36
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 7\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal monosomy 7q36
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Deletion of part of chromosome 7\7q partial monosomy\Distal deletion of long arm of chromosome 7\Distal monosomy 7q36
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal monosomy 7q36

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3642748017	Distal deletion 7q36	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3642749013	Distal monosomy 7q36 syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3642750013	Distal monosomy 7q36 syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3642751012	Distal monosomy 7q36	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3642752017	A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 7. The syndrome has a highly variable phenotype with typical characteristics of holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.	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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