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4135001: 11p partial monosomy syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome

\Anomaly of chromosome pair 11\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome

\Anomaly of chromosome pair 11\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

8380016 11p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

778129019 11p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5867681000005113 partielt monosomi 11p-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
11p partial monosomy syndrome	Is a	Anomaly of chromosome pair 11	false	Inferred relationship	Some
11p partial monosomy syndrome	Is a	Congenital aniridia (disorder)	false	Inferred relationship	Some
11p partial monosomy syndrome	Is a	Congenital anomaly of trunk	false	Inferred relationship	Some
11p partial monosomy syndrome	Is a	Nephroblastoma	false	Inferred relationship	Some
11p partial monosomy syndrome	Is a	Tumor of iris	false	Inferred relationship	Some
11p partial monosomy syndrome	Finding site	Iris structure	false	Inferred relationship	Some	4
11p partial monosomy syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some	1
11p partial monosomy syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
11p partial monosomy syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	4
11p partial monosomy syndrome	Associated morphology	Nephroblastoma	false	Inferred relationship	Some	2
11p partial monosomy syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some	2
11p partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
11p partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
11p partial monosomy syndrome	Finding site	Kidney structure	false	Inferred relationship	Some	1
11p partial monosomy syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Pathological process	Malignant neoplastic process	false	Inferred relationship	Some
11p partial monosomy syndrome	Finding site	Iridial and/or ciliary structure	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Is a	Malignant neoplasm of head and/or neck (disorder)	false	Inferred relationship	Some
11p partial monosomy syndrome	Is a	Neoplasm of eye region (disorder)	false	Inferred relationship	Some
11p partial monosomy syndrome	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Some	2
11p partial monosomy syndrome	Finding site	Iridial and/or ciliary structure	false	Inferred relationship	Some	2
11p partial monosomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Is a	Primary malignant neoplasm of retroperitoneum (disorder)	false	Inferred relationship	Some
11p partial monosomy syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1
11p partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some	4
11p partial monosomy syndrome	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Associated morphology	Nephroblastoma	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
11p partial monosomy syndrome	Finding site	Iris structure	false	Inferred relationship	Some	1
11p partial monosomy syndrome	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Some
11p partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Finding site	Iris structure	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
11p partial monosomy syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	2
11p partial monosomy syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
11p partial monosomy syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
11p partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
11p partial monosomy syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
11p partial monosomy syndrome	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	1
11p partial monosomy syndrome	Is a	Deletion of part of chromosome 11 (disorder)	true	Inferred relationship	Some
11p partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
11p partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
11p partial monosomy syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Some	2
11p partial monosomy syndrome	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).	Is a	True	11p partial monosomy syndrome	Inferred relationship	Some
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces.	Is a	True	11p partial monosomy syndrome	Inferred relationship	Some
11p15 deletion syndrome	Is a	True	11p partial monosomy syndrome	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
8380016	11p partial monosomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
778129019	11p partial monosomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5867681000005113	partielt monosomi 11p-syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)