764519007: Distal trisomy 3p (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3\3p partial trisomy syndrome\Distal trisomy 3p (disorder)
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3p partial trisomy syndrome\Distal trisomy 3p (disorder)
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3p partial trisomy syndrome\Distal trisomy 3p (disorder)
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3p partial trisomy syndrome\Distal trisomy 3p (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3\3p partial trisomy syndrome\Distal trisomy 3p (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3p partial trisomy syndrome\Distal trisomy 3p (disorder)

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
3650185016	Distal trisomy 3p (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650186015	Distal duplication 3p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650187012	Telomeric duplication 3p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3650188019	Distal trisomy 3p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3649908019	A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 3 with highly variable phenotype. Principle characteristics are craniofacial dysmorphism (brachy/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (patent ductus arteriosus) and urogenital (renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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