766051001: Distal trisomy 17q syndrome (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 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome\Distal trisomy 17q

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
3660631018	Distal duplication 17q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660632013	Telomeric duplication 17q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660633015	Distal trisomy 17q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660645012	Distal trisomy 17q syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3660646013	Distal trisomy 17q syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404593017	Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404594011	Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterised by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (including microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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