787171006: 21q22.11q22.12 microdeletion syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\21q22.11q22.12 microdeletion syndrome
• \constatation à propos d'une région de la tête et du cou\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\21q22.11q22.12 microdeletion syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\21q22.11q22.12 microdeletion syndrome
• \Disease\Genetic disease\21q22.11q22.12 microdeletion syndrome
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 21\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 21\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\21q22.11q22.12 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3774792010	21q22.11q22.12 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3774793017	Monosomy 21q22.11q22.12	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3774794011	21q22.11q22.12 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3775518015	A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3775519011	A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioral problems and seizures may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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