764512003: Distal trisomy 22q syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal trisomy 22q syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal trisomy 22q syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal trisomy 22q syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal trisomy 22q syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 22q syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal trisomy 22q syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal trisomy 22q syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 22q syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3650173012	Distal duplication 22q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650175017	Distal trisomy 22q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650176016	Telomeric duplication 22q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4555273013	Distal trisomy 22q syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555274019	Distal trisomy 22q syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3649906015	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 22 with variable phenotype. Principle characteristics are varying degrees of intellectual disability and developmental delay, pre and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies 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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