764447009: Distal trisomy 11q (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11\11q partial trisomy syndrome\Distal trisomy 11q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11\11q partial trisomy syndrome\Distal trisomy 11q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Partial trisomy of chromosome 11\11q partial trisomy syndrome\Distal trisomy 11q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11\11q partial trisomy syndrome\Distal trisomy 11q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 11\Partial trisomy of chromosome 11\11q partial trisomy syndrome\Distal trisomy 11q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11\11q partial trisomy syndrome\Distal trisomy 11q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3650155014	Telomeric duplication 11q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650156010	Distal trisomy 11q (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3650157018	Distal trisomy 11q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650158011	Distal duplication 11q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649871013	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 11 with high phenotypic variability. Principle characteristics are craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (atrial septal defect), skeletal (brachy/syndactyly) and genital (micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) 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

Description inactivation indicator reference set

REPLACED BY association reference set

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