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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
1q partial monosomy (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
11q partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
11q partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
3p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
7q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
21q partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
10q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
9p partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
18q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
15q partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
7p 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) 1
4q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
18p partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
7q partial monosomy Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
16q partial monosomy syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
9q partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
5p partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
13q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
11q partial monosomy syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial monosomy syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
9q22.3 deletion syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Jacobsen syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Jacobsen syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
1q41q42 microdeletion syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 1q syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
3q29 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
8q21.11 microdeletion syndrome (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) 2
Distal monosomy 6p (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
12q14 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
14q11.2 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of long arm of chromosome 17 Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
17q23.1q23.2 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. 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) 2
6p22 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Chromosome Xp11.3 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
20p12.3 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
2p15p16.1 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
2q23.1 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
2q24 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Associated morphology False 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) 2
15q14 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
16p11.2p12.2 microdeletion syndrome Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
8p11.2 deletion syndrome is a contiguous gene syndrome characterised by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
4q21 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
6q25 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
6q terminal deletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. 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) 2
1q44 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
8q22.1 microdeletion syndrome (disorder) Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion 5q35 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Monosomy 9q22.3 syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 9
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Chromosome Xp22.3 microdeletion syndrome Associated morphology False Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 17q (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 2 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of chromosome 3 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 4 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 5 (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 5 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 6 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 7 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 8 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 9 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 10 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 11 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 12 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 13 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 14 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 15 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 16 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of chromosome 17 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 18 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 19 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of short arm of chromosome 19 (disorder) Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 20 Associated morphology True Partial monosomy (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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