719046005: 12q14 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\12q14 microdeletion syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\12q14 microdeletion syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\12q14 microdeletion syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\12q14 microdeletion syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\12q14 microdeletion syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\12q14 microdeletion syndrome
\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 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 12\Deletion of part of long arm of chromosome 12\12q14 microdeletion syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Deletion of part of chromosome 12\Deletion of part of long arm of chromosome 12\12q14 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 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 12\Deletion of part of long arm of chromosome 12\12q14 microdeletion syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Deletion of part of chromosome 12\Deletion of part of long arm of chromosome 12\12q14 microdeletion syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\12q14 microdeletion syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\12q14 microdeletion syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3314798017 12q14 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core

3314799013 Osteopoikilosis with short stature and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3314800012 Monosomy 12q14 en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
12q14 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
12q14 microdeletion syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
12q14 microdeletion syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Some	2
12q14 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
12q14 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	1
12q14 microdeletion syndrome	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
12q14 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
12q14 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
12q14 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
12q14 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
12q14 microdeletion syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
12q14 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
12q14 microdeletion syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
12q14 microdeletion syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	4
12q14 microdeletion syndrome	Interprets	Bone density scan	true	Inferred relationship	Some	4
12q14 microdeletion syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	5
12q14 microdeletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
12q14 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	2
12q14 microdeletion syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
12q14 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
12q14 microdeletion syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
12q14 microdeletion syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
12q14 microdeletion syndrome	Is a	Osteopoikilosis	true	Inferred relationship	Some
12q14 microdeletion syndrome	Is a	Anomaly of chromosome pair 12	false	Inferred relationship	Some
12q14 microdeletion syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
12q14 microdeletion syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
12q14 microdeletion syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
12q14 microdeletion syndrome	Associated morphology	Partial monosomy	false	Inferred relationship	Some	4
12q14 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
12q14 microdeletion syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Some	4
12q14 microdeletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	5
12q14 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
12q14 microdeletion syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Some	5
12q14 microdeletion syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
12q14 microdeletion syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
12q14 microdeletion syndrome	Finding site	Bone structure	false	Inferred relationship	Some	6
12q14 microdeletion syndrome	Is a	Deletion of part of long arm of chromosome 12	true	Inferred relationship	Some
12q14 microdeletion syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313935015	12q14 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3314798017	12q14 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3314799013	Osteopoikilosis with short stature and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3314800012	Monosomy 12q14	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core