Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Standing height |
Is a |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
|
Recumbent body height (observable entity) |
Is a |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
|
Body height prior to removal of a lower limb or part of a lower limb. |
Is a |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
|
The approximate length of the body. |
Is a |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
|
The stated length of the body. |
Is a |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
|
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
4 |
A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss. |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
4 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay and mild chondrodysplasia with short stature and abnormal growth plate morphology. Dysmorphic facial features are variable and may include hypertelorism, upslanting palpebral fissures, broad nose with broad nasal tip, and low-set, cup-shaped ears, among others. Autism spectrum disorder and neurologic abnormalities have also been reported. |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
3 |
A rare mitochondrial disease characterized by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
8 |
A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
2 |
A rare, genetic, syndromic rod-cone dystrophy disorder characterized by psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
4 |
Leri-Weill dyschondrosteosis |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
8 |
Body height below reference range |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
1 |
Familial short stature (finding) |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
1 |
Short stature of childhood (disorder) |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
3 |
Short stature for age (finding) |
Interprets |
True |
The distance from the base to the top of a subject's entire body. |
Inferred relationship |
Some |
1 |