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67285006: Deletion of short arm (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
111800015 Deletion of short arm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
806992019 Deletion of short arm (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
111800015 Deletion of short arm en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
111800015 Deletion of short arm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
806992019 Deletion of short arm (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
806992019 Deletion of short arm (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of short arm Is a Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
4p partial monosomy syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
8p partial monosomy syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
7p partial monosomy Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
12p partial monosomy syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
1p partial monosomy Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
11p partial monosomy syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
18p partial monosomy syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9p partial monosomy syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
5p partial monosomy syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
9p partial monosomy syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
10p partial monosomy syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept)
Potocki-Shaffer syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
10p partial monosomy syndrome (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
12p partial monosomy syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
1p partial monosomy Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
3p partial monosomy syndrome Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial monosomy syndrome Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9p partial monosomy syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial monosomy Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial monosomy syndrome Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
5p partial monosomy syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial monosomy syndrome (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9q22.3 deletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
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 Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal monosomy 6p (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
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 False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
6p22 microdeletion syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome Xp11.3 microdeletion syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.3 microdeletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
2p15p16.1 microdeletion syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
16p11.2p12.2 microdeletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
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 Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
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 Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypoparathyroidism, deafness, renal disease syndrome (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 8
Chromosome Xp22.3 microdeletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 2 (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of short arm of chromosome 6 (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 16 (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of short arm of chromosome 19 (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 17 (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of short arm of chromosome 20 (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal 16p11.2 microdeletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 6
1p36 deletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
19p13.13 microdeletion syndrome (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9p13 microdeletion syndrome (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 9p syndrome (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 17p13.3 microdeletion syndrome Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
1p31p32 microdeletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
16p12.2 microdeletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 19p13.3 Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
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 Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 17p13.1 microdeletion syndrome Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
2p21 microdeletion syndrome without cystinuria (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
2p13.2 microdeletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
20p13 microdeletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 7p syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Potocki-Shaffer syndrome Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
11p partial monosomy syndrome Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
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 True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
11p15 deletion syndrome Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.2 deletion syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
3p25.3 deletion syndrome (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
7p12-p14 deletion syndrome Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
7p21.1 deletion syndrome (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
9p24.3 deletion syndrome (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
7p partial monosomy Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of short arm of chromosome 1 (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of short arm of chromosome 3 (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of short arm of chromosome 8 (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of short arm of chromosome 1 Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of short arm of chromosome 1 Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of short arm of chromosome 18 (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 8 Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 6 Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 1 Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of short arm of chromosome 3 (disorder) Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 3
Proximal deletion of short arm of chromosome 9 Associated morphology True Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 7 (disorder) Associated morphology False Deletion of short arm Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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