763276000: Distal trisomy 7p syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\Distal trisomy 7p syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\Distal trisomy 7p syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\Distal trisomy 7p syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\Distal trisomy 7p syndrome
• \Congenital disease\Congenital anomaly\Distal trisomy 7p syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\Distal trisomy 7p syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\Distal trisomy 7p syndrome
• \Developmental disorder\Congenital anomaly\Distal trisomy 7p syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638363011	Distal trisomy 7p	en	Synonym	Active	Case insensitive	SNOMED CT core
3638364017	Distal duplication 7p	en	Synonym	Active	Case insensitive	SNOMED CT core
4555209013	Distal trisomy 7p syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555210015	Distal trisomy 7p syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3638365016	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro/retrognathia) and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly 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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