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4135001: 11p partial monosomy syndrome (disorder)

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
8380016 11p partial monosomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
8380016 11p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8381017 Aniridia-Wilms tumor association en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
492968017 Aniridia-Wilms tumour association en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
778129019 11p partial monosomy syndrome (disorder) en Fully specified name Active Only initial character 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
4401891000241113 monosomie partielle 11p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4401891000241113 monosomie partielle 11p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Is a Congenital aniridia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Is a Congenital anomaly of trunk false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Is a Nephroblastoma (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Is a Tumor of iris false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Finding site Iris structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
11p partial monosomy syndrome Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
11p partial monosomy syndrome Associated morphology Nephroblastoma false Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Finding site Kidney structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Pathological process Malignant neoplastic process false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Finding site Iridial and/or ciliary structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Is a Malignant neoplasm of head and/or neck false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Is a Neoplasm of eye region (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Finding site Structure of parenchyma of kidney false Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Finding site Iridial and/or ciliary structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Is a Primary malignant neoplasm of retroperitoneum (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Finding site Chromosome pair 11 true Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Existential restriction modifier (core metadata concept) 4
11p partial monosomy syndrome Finding site Structure of parenchyma of kidney false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Associated morphology Nephroblastoma false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Finding site Iris structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Is a Hereditary disorder of the visual system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Finding site Iris structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Finding site Chromosome pair 11 false Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
11p partial monosomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Associated morphology Absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Is a Deletion of part of chromosome 11 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Finding site Chromosome pair 11 true Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Potocki-Shaffer syndrome Is a True 11p partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
11p15 deletion syndrome Is a True 11p partial monosomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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