764703002: 7p22.1 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\7p22.1 microduplication syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\7p22.1 microduplication syndrome
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\7p22.1 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
• \Developmental disorder\Developmental hereditary disorder\7p22.1 microduplication syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\7p22.1 microduplication syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654881019	7p22.1 microduplication syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3654882014	Trisomy 7p22.1	en	Synonym	Active	Case insensitive	SNOMED CT core
3654883016	7p22.1 microduplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654654017	A rare chromosomal anomaly syndrome, resulting from a partial interstitial micro duplication of the short arm of chromosome 7. The disease has characteristics of intellectual disability, psychomotor and speech delay, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidism. Cardiac (patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated.	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

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