719046005: 12q14 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\12q14 microdeletion syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\12q14 microdeletion syndrome (disorder)

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

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

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

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q14 microdeletion syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\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\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q14 microdeletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\12q14 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopoikilosis\12q14 microdeletion syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\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

5401942015 12q14 microdeletion syndrome is characterized by 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

5401943013 12q14 microdeletion syndrome is characterised by 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)	Is a	Osteopoikilosis	true	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Is a	Anomaly of chromosome pair 12	false	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Is a	Deletion of part of autosome	false	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
12q14 microdeletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
12q14 microdeletion syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	6
12q14 microdeletion syndrome (disorder)	Is a	Deletion of part of long arm of chromosome 12 (disorder)	true	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
12q14 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
12q14 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	Associated morphology	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)	Occurrence	Congenital	true	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	Associated morphology	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)	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
12q14 microdeletion syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	4
12q14 microdeletion syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	5
12q14 microdeletion syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
12q14 microdeletion syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	6
12q14 microdeletion syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6
12q14 microdeletion syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	7
12q14 microdeletion syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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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
5401942015	12q14 microdeletion syndrome is characterized by 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
5401943013	12q14 microdeletion syndrome is characterised by 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