| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Deletion of long arm of chromosome 19 |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Partial trisomy of long arm of chromosome 5 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 5q35 microduplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal trisomy 5q syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Trisomy 1q syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Partial trisomy of long arm of chromosome 1 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 14q syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
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. |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal 7q11.23 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Oculootodental syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Jacobsen syndrome |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q11.2 microduplication syndrome (disorder) |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 15q11.2 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q22q23 microdeletion syndrome |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 15q overgrowth syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal 7q11.23 microduplication syndrome |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism. |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 3q26 microduplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (including genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 7q partial monosomy |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal trisomy 18q |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 10q22.3q23.3 microduplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 21q22.11q22.12 microdeletion syndrome |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Williams syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 17q23.1-q23.2 duplication syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 17q24-qter duplication syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal trisomy 12q (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal trisomy 1q (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal deletion of long arm of chromosome 7 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Distal trisomy 7q |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal trisomy 3q |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Paternal 14q32.2 microdeletion (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial deletion of long arm of chromosome 1 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial deletion of long arm of chromosome 9 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial deletion of long arm of chromosome 7 |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial deletion of long arm of chromosome 7 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Medial duplication of long arm of chromosome 2 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial duplication of long arm of chromosome 4 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial duplication of long arm of chromosome 1 |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial duplication of long arm of chromosome 1 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Medial duplication of long arm of chromosome 7 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial duplication of long arm of chromosome 5 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial duplication of long arm of chromosome 9 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal duplication of long arm of chromosome 6 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal duplication of long arm of chromosome 5 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal duplication of long arm of chromosome 4 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal duplication of long arm of chromosome 3 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal duplication of long arm of chromosome 18 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal duplication of long arm of chromosome 2 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal duplication of long arm of chromosome 17 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal duplication of long arm of chromosome 16 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal duplication of long arm of chromosome 10 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal duplication of long arm of chromosome 12 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Mosaic 1q duplication |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal duplication of long arm of chromosome 11 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal duplication of long arm of chromosome 9 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal duplication of long arm of chromosome 7 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal duplication of long arm of chromosome 8 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal deletion of long arm of chromosome 7 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Proximal duplication of long arm of chromosome 1 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 7q partial trisomy (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 10q partial monosomy (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 10q22.3q23.3 microdeletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Non-distal monosomy 10q (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Distal 7q11.23 microduplication syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 7q11.23 microduplication syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Medial duplication of long arm of chromosome 7 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Proximal deletion of long arm of chromosome 10 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal monosomy 10q |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 1q partial monosomy (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 1q21.1 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 1q44 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 1q41q42 microdeletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Proximal deletion of long arm of chromosome 1 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 22q partial monosomy |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 22q13.3 deletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal 22q11.2 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 22q11.2 deletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 22q partial trisomy (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal trisomy 22q |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from an asymptomatic parent. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 22q11.2 duplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 21q partial trisomy |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 21q partial distal trisomy (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Paternal 20q13.2q13.3 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deletion of part of long arm of chromosome 20 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
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. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Monosomie 14q, distale |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 20q partial trisomy (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal trisomy 20q syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal monosomy 1q syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q partial trisomy (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 14q partial distal trisomy syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q11.2 microduplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Partial deletion of long arm of chromosome 14 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q11.2 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q24.1q24.3 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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