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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
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 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 Neoplasm of iris (disorder) false Inferred relationship Some
11p partial monosomy syndrome Finding site Iris structure (body 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 anomalie du développement 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 (cell structure) 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 anomalie congénitale 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 (cell structure) 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 (body 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 (body 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 (cell structure) 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 (cell structure) 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
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. 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

Description inactivation indicator reference set

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