719046005: syndrome de microdélétion 12q14 (trouble)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\12q14 microdeletion syndrome (disorder)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\12q14 microdeletion syndrome (disorder)
\constatation générale à propos de l'observation du patient\constatation liée à une intervention\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)

\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 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q14 microdeletion syndrome (disorder)
\Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 12 (trouble)\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q14 microdeletion syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\12q14 microdeletion syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\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 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q14 microdeletion syndrome (disorder)
\Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 12 (trouble)\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q14 microdeletion syndrome (disorder)
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\12q14 microdeletion syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\12q14 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3313935015 12q14 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3314798017 12q14 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3314799013 Osteopoikilosis with short stature and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3314800012 Monosomy 12q14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

753491000241119 syndrome de microdélétion 12q14 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

989441000172118 del(12)(q14) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

998691000172119 syndrome de microdélétion 12q14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3314801011 This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
12q14 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 12 (cell structure)	false	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	morphologie associée (attribut)	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 12 (cell structure)	true	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	morphologie associée (attribut)	Deletion of long arm	false	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	a pour interprétation (attribut)	au-dessus de l'étendue de référence	true	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	interprète (attribut)	ostéodensitométrie	true	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	localisation d'une constatation (attribut)	Long arm of chromosome (cell structure)	true	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	morphologie associée (attribut)	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	est un(e) (attribut)	Osteopoikilosis	true	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	est un(e) (attribut)	anomalie du chromosome 12 (trouble)	false	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	est un(e) (attribut)	insuffisance staturale	true	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	est un(e) (attribut)	Deletion of part of autosome	false	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	morphologie associée (attribut)	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 12 (cell structure)	false	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	morphologie associée (attribut)	Deletion of long arm	false	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 12 (cell structure)	false	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	6
12q14 microdeletion syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	6
12q14 microdeletion syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	6
12q14 microdeletion syndrome (disorder)	est un(e) (attribut)	Deletion of part of long arm of chromosome 12 (disorder)	true	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313935015	12q14 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314798017	12q14 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314799013	Osteopoikilosis with short stature and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314800012	Monosomy 12q14	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753491000241119	syndrome de microdélétion 12q14 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
989441000172118	del(12)(q14)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
998691000172119	syndrome de microdélétion 12q14	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3314801011	This syndrome has characteristics of mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core