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86277003: Monosomy (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\Cellular AND/OR subcellular abnormality\Chromosomal morphology\Karyotype morphology\Monosomy

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

Descriptions:

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
partiel monosomi 12p-syndrom	Associated morphology	False	Monosomy	Inferred relationship	Some
partiel monosomi 16q-syndrom	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	Associated morphology	False	Monosomy	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Associated morphology	False	Monosomy	Inferred relationship	Some	1
partiel monosomi 15q-syndrom	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
partiel monosomi 9p-syndrom	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	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
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).	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 and typical characteristics of short length, joint abnormalities (for example 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

Description inactivation indicator reference set

GB English

US English

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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
2840791000005111	Monosomi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)