766053003: Distal trisomy 1p36 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1\Distal trisomy 1p36
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1\Distal trisomy 1p36
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1\Distal trisomy 1p36
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1\Distal trisomy 1p36
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 1p36
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1\Distal trisomy 1p36
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of short arm of chromosome 1\Distal trisomy 1p36
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 1p36

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3660639016	Distal duplication 1p36	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660641015	Distal trisomy 1p36	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660642010	Telomeric duplication 1p36	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660643017	Distal trisomy 1p36 syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3660644011	Distal trisomy 1p36 syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3659799017	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 1. The disease has characteristics of borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (including sloping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (for example atrial septal defect, patent ductus arteriosus) 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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