773670004: Distal Xq28 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Distal Xq28 microduplication syndrome
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Distal Xq28 microduplication syndrome
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xq28 trisomy (disorder)\Distal Xq28 microduplication syndrome
• \Mental disorder\Developmental mental disorder\Intellectual disability\Distal Xq28 microduplication syndrome
• \Congenital disease (disorder)\Congenital malformation\Distal Xq28 microduplication syndrome
• \Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xq28 trisomy (disorder)\Distal Xq28 microduplication syndrome
• \Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Distal Xq28 microduplication syndrome
• \Developmental disorder\Developmental hereditary disorder\Distal Xq28 microduplication syndrome
• \Developmental disorder\Congenital malformation\Distal Xq28 microduplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3725602017	Distal Xq28 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3725603010	Distal Xq28 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3725604016	Distal trisomy Xq28	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3725605015	A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725606019	A rare hereditary syndromic intellectual disability characterised by cognitive impairment, behavioural and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4205501000052118	distalt Xq28-mikroduplikationssyndrom	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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