| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Dyschondrosteose - Nephritis |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Schimke immuno-osseous dysplasia |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microspherophakia with metaphyseal dysplasia syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephalic primordial dwarfism due to ZNF335 deficiency |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Laron syndrome with immunodeficiency (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Craniolenticulosutural dysplasia (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| CHST3-related skeletal dysplasia |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephalic osteodysplastic primordial dwarfism types I and III |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Short stature locking fingers syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Coxoauricular syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Hydrocephalus, tall stature, joint laxity syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Trigonocephaly, short stature, developmental delay syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Deafness, vitiligo, achalasia syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephalus, hypergonadotropic hypogonadism, short stature syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Ulna metaphyseal dysplasia syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Reinhardt Pfeiffer mesomelic dysplasia |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephalic primordial dwarfism Toriello type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Growth delay due to insulin-like growth factor I resistance (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Mesomelic dysplasia Savarirayan type (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Multiple epiphyseal dysplasia type 4 (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Multiple epiphyseal dysplasia type 1 |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Multiple epiphyseal dysplasia type 5 (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Smith McCort dysplasia (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| GMS syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Idiopathic short stature |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Nutritional stunting in infancy (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Nutritional stunting in childhood (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Nutritional stunting in adolescence (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Short stature co-occurrent and due to endocrine disorder (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Spondyloepimetaphyseal dysplasia Isidor type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Brachydactyly, short stature, retinitis pigmentosa syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Richieri Costa-da Silva syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Thoracic dysplasia and hydrocephalus syndrome (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Thoracomelic dysplasia |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Subaortic stenosis and short stature syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Short stature due to partial growth hormone receptor deficiency |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Ichthyosis, short stature, brachydactyly, microspherophakia syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Reunion Island Larsen-like syndrome |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Autosomal recessive brachyolmia (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 21q22.11q22.12 microdeletion syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Myhre syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Warsaw breakage syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Ear, patella, short stature syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Spondyloenchondrodysplasia with immune dysregulation (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Microcephalic primordial dwarfism Alazami type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephalic primordial dwarfism Dauber type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked spondyloepimetaphyseal dysplasia |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Metaphyseal chondrodysplasia Kaitila type (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Rhizomelic syndrome Urbach type |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, short stature, hypertelorism syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Thumb deformity, alopecia, pigmentation anomaly syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Pseudoleprechaunism syndrome Patterson type (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Cleft palate, large ears, small head syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Craniofaciofrontodigital syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Wiedemann Steiner syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Short stature, wormian bones, dextrocardia syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Oculomaxillofacial dysostosis |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Pectus excavatum, macrocephaly, dysplastic nails syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Short stature homeobox related short stature (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, the first phenotype; patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities. The second phenotype; short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly. The third phenotype; patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Spondyloepimetaphyseal dysplasia anauxetic type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Larsen-like osseous dysplasia, short stature syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Dyssegmental dysplasia Silverman Handmaker type (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephalic primordial dwarfism Montreal type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Multiple epiphyseal dysplasia with miniepiphyses (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Nijmegen breakage syndrome-like disorder |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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