1229875002: 9q21.13 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\9q21.13 microdeletion syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\9q21.13 microdeletion syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\9q21.13 microdeletion syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\9q21.13 microdeletion syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\9q21.13 microdeletion syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\9q21.13 microdeletion syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\9q21.13 microdeletion syndrome
• \Disease\Genetic disease\9q21.13 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 9\9q partial monosomy syndrome\9q21.13 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 9\Deletion of part of chromosome 9\9q partial monosomy syndrome\9q21.13 microdeletion syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\9q21.13 microdeletion syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\9q21.13 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\9q21.13 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\9q21.13 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 9\9q partial monosomy syndrome\9q21.13 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 9\Deletion of part of chromosome 9\9q partial monosomy syndrome\9q21.13 microdeletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\9q21.13 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\9q21.13 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\9q21.13 microdeletion syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\9q21.13 microdeletion syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5065568017	9q21.13 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5065569013	9q21.13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5065573011	A rare genetic intellectual disability malformation syndrome with characteristics of global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behaviour and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis and strabismus.	en	Definition	Active	Case sensitive	SNOMED CT core
5065574017	A rare genetic intellectual disability malformation syndrome with characteristics of global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis and strabismus.	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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