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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

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Monosomy Is a Karyotype morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
10q partial monosomy (disorder) Associated morphology False Monosomy Inferred relationship Some 1
4p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
8p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
22q partial monosomy (disorder) Associated morphology False Monosomy Inferred relationship Some
7p partial monosomy (disorder) Associated morphology False Monosomy Inferred relationship Some
13q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some 1
8q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some 1
12p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
16q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
4q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
11p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some 1
18q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
11q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
9q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
18p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
10p partial monosomy syndrome (disorder) Associated morphology False Monosomy Inferred relationship Some 1
9p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some 1
15q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
5p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
Complete monosomy 21 (disorder) Associated morphology False Monosomy Inferred relationship Some
7q partial monosomy Associated morphology False Monosomy Inferred relationship Some
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology False Monosomy Inferred relationship Some
9p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
11p partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some 4
13q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
10p partial monosomy syndrome (disorder) Associated morphology False Monosomy Inferred relationship Some
10q partial monosomy (disorder) Associated morphology False Monosomy Inferred relationship Some
8q partial monosomy syndrome Associated morphology False Monosomy Inferred relationship Some
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. Associated morphology False Monosomy Inferred relationship Some 4
Complete monosomy 21 (disorder) Associated morphology True Monosomy Inferred relationship Some 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 Some 4
Complete monosomy of autosome (disorder) Associated morphology True Monosomy Inferred relationship Some 1
Monosomy X (morphologic abnormality) Is a True Monosomy Inferred relationship Some
A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise. Associated morphology True Monosomy Inferred relationship Some 1

Reference Sets

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