765484001: Ring chromosome 19 syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 19 syndrome
• \Congenital chromosomal disease\Ring chromosome\Ring chromosome 19 syndrome
• \Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Ring chromosome 19 syndrome
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 19 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 19\Ring chromosome 19 syndrome
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 19 syndrome

Status: current, 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
3658945012	Ring chromosome 19 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3658946013	Ring chromosome 19	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3658947016	Ring chromosome 19 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404543016	Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (especially speech) and mild dysmorphism (including micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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