| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 14q24.1q24.3 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q12 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 14q32 deletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 14q22q23 microdeletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| 14q partial proximal trisomy syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 5q31.3 microdeletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Deletion 5q35 (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 5 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 5q22.2 deletion syndrome |
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 5 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal deletion of long arm of chromosome 5 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 22q11 partial monosomy syndrome |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Choroideremia with deafness and obesity syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Chromosome Xq27.3q28 duplication syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Distal Xq28 microduplication syndrome (disorder) |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Xq28-Duplikationssyndrom, proximales |
Finding site |
False |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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 |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Xq12-q13.3 duplication syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 3q29 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 3q26q27 microdeletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deletion of part 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 |
| 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. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Distal deletion of long arm of chromosome 3 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal deletion 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 |
| 17q23.1q23.2 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 17q (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Deletion of part of long arm of chromosome 17 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 17q12 microdeletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 17q11 deletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal deletion of long arm of chromosome 17 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 12q15q21.1 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 12q14 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 12 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Non-distal monosomy 12q (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 12q15 deletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 12q24.31-q24.32 deletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal deletion of long arm of chromosome 12 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal deletion of long arm of chromosome 12 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Partial deletion of long arm of chromosome 15 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 15q |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 15q14 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 15q13.3 microdeletion |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 15q24 microdeletion |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Tetrasomy 15q (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Partial duplication of long arm of chromosome 15 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 15q13.3 microduplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 15q11q13 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 16 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 16q24.1 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum 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 16 |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Proximal deletion of long arm of chromosome 16 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Duplication of part of long arm of chromosome 16 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Chromosome 2q37 deletion syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 2q23.1 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 2q24 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 2 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 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. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Distal deletion 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 deletion 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 deletion 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 |
| A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 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. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 13q partial monosomy syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Monosomy 13q14 syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal monosomy 13q syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Monosomy 13q34 syndrome |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deletion of long arm of chromosome 13 (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Joint contractures, developmental delay, Pierre Robin syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 17q24.2 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| 20q11.2 microdeletion syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 14q32 duplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Distal Xq28 microduplication syndrome (disorder) |
Finding site |
True |
Long arm of chromosome (cell structure) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
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