702346005: Chromosome 11p11.2 deletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mass of body structure\Mass of musculoskeletal structure\Exostosis\Congenital exostosis\Chromosome 11p11.2 deletion syndrome

\Musculoskeletal finding\Mass of musculoskeletal structure\Exostosis\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Exostosis\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Exostosis\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Chromosome 11p11.2 deletion syndrome

\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11\11p partial monosomy syndrome\Chromosome 11p11.2 deletion syndrome
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Deletion of part of chromosome 11\11p partial monosomy syndrome\Chromosome 11p11.2 deletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Exostosis\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Chromosome 11p11.2 deletion syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11\11p partial monosomy syndrome\Chromosome 11p11.2 deletion syndrome
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Deletion of part of chromosome 11\11p partial monosomy syndrome\Chromosome 11p11.2 deletion syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital exostosis\Chromosome 11p11.2 deletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Chromosome 11p11.2 deletion syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital exostosis\Chromosome 11p11.2 deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

2995037013 Proximal 11p deletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

2995170018 Chromosome 11p11.2 deletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

2995658018 P11pDS - proximal 11p deletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

2995935019 Potocki-Shaffer syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

2995937010 Chromosome 11p11.2 deletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome 11p11.2 deletion syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier
Chromosome 11p11.2 deletion syndrome	Is a	11p partial monosomy syndrome	true	Inferred relationship	Existential restriction modifier
Chromosome 11p11.2 deletion syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Existential restriction modifier	3
Chromosome 11p11.2 deletion syndrome	Associated morphology	Monosomy	false	Inferred relationship	Existential restriction modifier	4
Chromosome 11p11.2 deletion syndrome	Associated morphology	Nephroblastoma	false	Inferred relationship	Existential restriction modifier	5
Chromosome 11p11.2 deletion syndrome	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Existential restriction modifier	5
Chromosome 11p11.2 deletion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Chromosome 11p11.2 deletion syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Chromosome 11p11.2 deletion syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Existential restriction modifier	7
Chromosome 11p11.2 deletion syndrome	Finding site	Iris structure	false	Inferred relationship	Existential restriction modifier	7
Chromosome 11p11.2 deletion syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier	6
Chromosome 11p11.2 deletion syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Existential restriction modifier	6
Chromosome 11p11.2 deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Chromosome 11p11.2 deletion syndrome	Finding site	Iris structure	false	Inferred relationship	Existential restriction modifier	1
Chromosome 11p11.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Chromosome 11p11.2 deletion syndrome	Associated morphology	Absence	false	Inferred relationship	Existential restriction modifier	1
Chromosome 11p11.2 deletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Chromosome 11p11.2 deletion syndrome	Is a	Congenital exostosis	true	Inferred relationship	Existential restriction modifier
Chromosome 11p11.2 deletion syndrome	Associated morphology	External hyperostosis	true	Inferred relationship	Existential restriction modifier	3
Chromosome 11p11.2 deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Chromosome 11p11.2 deletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Chromosome 11p11.2 deletion syndrome	Associated morphology	Deletion of short arm	true	Inferred relationship	Existential restriction modifier	2
Chromosome 11p11.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Chromosome 11p11.2 deletion syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Chromosome 11p11.2 deletion syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Existential restriction modifier	1
Chromosome 11p11.2 deletion syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Existential restriction modifier	2
Chromosome 11p11.2 deletion syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	3
Chromosome 11p11.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2995037013	Proximal 11p deletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2995170018	Chromosome 11p11.2 deletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2995658018	P11pDS - proximal 11p deletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2995935019	Potocki-Shaffer syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2995937010	Chromosome 11p11.2 deletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module