763275001: Distal trisomy 6q (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6q partial trisomy syndrome\Distal trisomy 6q
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6q partial trisomy syndrome\Distal trisomy 6q
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Partial trisomy of chromosome 6\6q partial trisomy syndrome\Distal trisomy 6q
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6q partial trisomy syndrome\Distal trisomy 6q
• \Congenital disease (disorder)\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 6\Partial trisomy of chromosome 6\6q partial trisomy syndrome\Distal trisomy 6q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6q partial trisomy syndrome\Distal trisomy 6q

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638358012	Distal trisomy 6q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3638359016	Distal trisomy 6q (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3638360014	Distal duplication 6q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3638361013	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6. The disorder has a highly variable phenotype with typical characteristics of growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity and seizures are other features that have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4129531000052115	distalt trisomi 6q-syndrom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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