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371169004: Partial monosomy (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1196464015 Partial monosomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1209870015 Partial monosomy en Synonym (core metadata concept) 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
Partial monosomy (morphologic abnormality) Is a Karyotype morphology true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
12q15q21.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 16 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of chromosome 21 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 3 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 9 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 7 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal deletion of short arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of short arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of short arm of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal 14q32.2 microdeletion (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 7 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 7 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Maternal 15q11q13 deletion Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 2 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of chromosome 13 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of chromosome 14 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 4 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of short arm of chromosome 18 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
6q16 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Proximal deletion of long arm of chromosome 8 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 9 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of long arm of chromosome 5 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 4 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 18 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 17 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 10 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of chromosome 21 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of chromosome 14 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of chromosome 15 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 8 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 12 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 11 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 6 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 3 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 9 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
10q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Non-distal monosomy 10q (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 10q Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
2q23.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 10 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1p partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1p36 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1p31p32 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of short arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1q21.1 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
1q44 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
1q41q42 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
1q41q42 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 1 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of long arm of chromosome 1 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
22q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
22q13.3 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
22q13.3 deletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 22q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomie 14q, distale Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
20p13 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 20 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.2 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 1q syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q11.2 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q24.1q24.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
14q12 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
14q32 deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 14q syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2

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