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278145009: Short arm of chromosome (cell structure)

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
414960017 Short arm of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1187509017 Short arm of chromosome (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
414960017 Short arm of chromosome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
414960017 Short arm of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
671267018 Short arm of chromosome (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1187509017 Short arm of chromosome (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1187509017 Short arm of chromosome (cell structure) 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
Short arm of chromosome Is a Chromosome structure (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept)
Short arm of chromosome partie de Cell false Inferred relationship Existential restriction modifier (core metadata concept)
Short arm of chromosome partie de Entire body as a whole (body structure) false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Deletion of short arm of chromosome 19 (disorder) Finding site False Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of short arm of chromosome 1 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of short arm of chromosome 19 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 1p36 Finding site False Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 8p syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of short arm of chromosome 8 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 19p13.3 Finding site False Short arm of chromosome 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. Finding site False Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
5p13 microduplication syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
11p15.4 microduplication syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
19p13.13 microdeletion syndrome (disorder) Finding site False Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Xp22.13p22.2 duplication syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Finding site False Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 1p Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 8p (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 9p Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial deletion of short arm of chromosome 1 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of short arm of chromosome 1 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 7 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 9 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 8 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 6 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 2 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 3 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 1 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 7p syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
7p22.1 microduplication syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
1p partial monosomy Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
1p36 deletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
1p31p32 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of short arm of chromosome 1 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 1 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
20p13 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
20p12.3 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 20 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
20p12.2 deletion syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 1p36 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
5p partial trisomy Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial deletion of short arm of chromosome 5 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
5p partial monosomy syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xp11.3 microdeletion syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xp22.3 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
16p12.2 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
16p11.2p12.2 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 16 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 16p11.2 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Microduplication Xp11.22p11.23 syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal monosomy 7p syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
7p12-p14 deletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
7p21.1 deletion syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal deletion of short arm of chromosome 7 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
7p partial monosomy Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetrasomy 18p Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetrasomy of short arm of chromosome 9 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal monosomy 6p (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
6p22 microdeletion syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of short arm of chromosome 6 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of short arm of chromosome 6 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 12 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. Finding site False Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome 16p11.2 deletion syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of short arm of chromosome 16 Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal 16p11.2 microduplication syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.3 microduplication syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
2p21 microdeletion syndrome without cystinuria (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
2p13.2 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
2p15p16.1 microdeletion syndrome (disorder) Finding site True Short arm of chromosome 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. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 2 (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetrasomy 12p syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2
1p35.2 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.2 microdeletion syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
19p13.3 microduplication syndrome (disorder) Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
16p12.1p12.3 triplication syndrome Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. Finding site True Short arm of chromosome Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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