Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Standing height |
Is a |
False |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Körperlänge |
Is a |
False |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sitting height |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pubis to ground height |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Height from demispan |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Subischial leg length |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Method for measuring height |
Is a |
False |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Body height abnormal for age (finding) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Body height growth rate (observable entity) |
Is a |
False |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
The standard deviation score for body height at the child's age of record. |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Body height (observable entity) |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Length for age z score |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Length for age percentile (observable entity) |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Height below average |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial short stature (finding) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short stature of childhood (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature for age (finding) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tall stature, intellectual disability, renal anomalies syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Overgrowth syndrome with 2q37 translocation |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Congenital generalized hypercontractile muscle stiffness syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Short stature, brachydactyly, obesity, global developmental delay syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Short stature, advanced bone age, early-onset osteoarthritis syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
1p35.2 microdeletion syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
9q33.3q34.11 microdeletion syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
11q22.2q22.3 microdeletion syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
MIRAGE syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
46,XX ovarian dysgenesis, short stature syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Short stature, developmental delay, congenital heart defect syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Coffin-Lowry syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Menke Hennekam syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Short stature homeobox related short stature (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Mesomelic dysplasia Kantaputra type (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Reinhardt Pfeiffer mesomelic dysplasia |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Diastrophic dysplasia |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal recessive Robinow syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
X-linked spondyloepimetaphyseal dysplasia |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Rhizomelic dysplasia of Patterson Lowry type (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Smith McCort dysplasia (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleidorhizomelic syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Distal arthrogryposis type 3 (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Body height of biological mother |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Body height of biological father |
Is a |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Interprets |
True |
Body height measure |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
13 |