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86277003: Monosomy (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
143082012 Monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143083019 Whole chromosome depletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
828506018 Monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
143082012 Monosomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
143082012 Monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
143083019 Whole chromosome depletion en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
143083019 Whole chromosome depletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
828506018 Monosomy (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
828506018 Monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Monosomy Is a Karyotype morphology true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial monosomy syndrome (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
10q partial monosomy (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
8p partial monosomy syndrome (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
7p partial monosomy Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
13q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
4q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
11q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
18p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1
9p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1
15q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
5p partial monosomy syndrome (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
Complete monosomy 21 (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
7q partial monosomy Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
9p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 4
13q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
10q partial monosomy (disorder) Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
8q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
Potocki-Shaffer syndrome Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 4
Complete monosomy 21 (disorder) Associated morphology True Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Associated morphology False Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 4
Complete monosomy of autosome (disorder) Associated morphology True Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy X Is a True Monosomy Inferred relationship Existential restriction modifier (core metadata concept)
Monosomy 22 syndrome (disorder) Associated morphology True Monosomy Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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