773670004: Distal Xq28 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Distal Xq28 microduplication syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Distal Xq28 microduplication syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Distal Xq28 microduplication syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Distal Xq28 microduplication syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Distal Xq28 microduplication syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Distal Xq28 microduplication syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Trisomy Xq28\Distal Xq28 microduplication syndrome
• \Disease\Congenital disease\Congenital anomaly\Distal Xq28 microduplication syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Trisomy Xq28\Distal Xq28 microduplication syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Distal Xq28 microduplication syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Distal Xq28 microduplication syndrome
• \Disease\Developmental disorder\Congenital anomaly\Distal Xq28 microduplication syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3725602017	Distal Xq28 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3725603010	Distal Xq28 microduplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3725604016	Distal trisomy Xq28	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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