1229873009: 17q24.2 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\17q24.2 microdeletion syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\17q24.2 microdeletion syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\17q24.2 microdeletion syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\17q24.2 microdeletion syndrome
• \Disease\Genetic disease\17q24.2 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\17q24.2 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\17q24.2 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\17q24.2 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\17q24.2 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\17q24.2 microdeletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\17q24.2 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\17q24.2 microdeletion syndrome
• \Disease\Developmental disorder\Developmental delay\17q24.2 microdeletion syndrome

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5065548011	17q24.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5065549015	17q24.2 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5065550015	A rare genetic multiple congenital anomalies/dysmorphic features-intellectual disability syndrome with characteristics of developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the fifth finger, second to third toe syndactyly), microcephaly, heart defects and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioural/psychiatric disorders.	en	Definition	Active	Case sensitive	SNOMED CT core
5065551016	A rare genetic multiple congenital anomalies/dysmorphic features-intellectual disability syndrome with characteristics of developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the fifth finger, second to third toe syndactyly), microcephaly, heart defects and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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