770794008: 11p15.4 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\11p15.4 microduplication syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\11p15.4 microduplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11p15.4 microduplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11p15.4 microduplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Partial trisomy of chromosome 11 (disorder)\11p15.4 microduplication syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11p15.4 microduplication syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)
• \Disease\Mental disorder\Developmental mental disorder\Intellectual disability\11p15.4 microduplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Partial trisomy of chromosome 11 (disorder)\11p15.4 microduplication syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11p15.4 microduplication syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\11p15.4 microduplication syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\11p15.4 microduplication syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\11p15.4 microduplication syndrome (disorder)

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
3702825016	Trisomy 11p15.4	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702826015	11p15.4 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702827012	11p15.4 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3702828019	A rare partial autosomal trisomy characterised by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioural abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702829010	A rare partial autosomal trisomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4209401000052119	11p15.4.mikroduplikationssyndromet	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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