Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Height centile |
Is a |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Growth velocity centile (observable entity) |
Is a |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Child height centile |
Is a |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Body height measure |
Is a |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Increased body growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Decreased body growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Appropriate growth (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Height increased (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Constitutional tall stature |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
General finding of height (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tall stature |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Has grown shorter |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
General growth finding |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Has grown in height |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Has not grown in height |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short stature |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Body growth problem (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Finding of measures of body height and growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Normal height (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Body height normal for age |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Normal growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Decrease in height |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tall for age |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Height / growth finding |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Completion of linear growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Growth pattern (observable entity) |
Is a |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Body height abnormal for age (finding) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Height and weight (observable entity) |
Is a |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Height below average |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Height above average (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
On examination - height |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
On examination - height greater than 20% below average |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
On examination - height 10-20% below average |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
On examination - height within 10% average |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
On examination - height 10-20% over average |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
On examination - height greater than 20% over average |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
On examination - loss of height |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
à l'examen : défaut de croissance |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
On examination - height NOS |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Abnormal height in relation to growth / age standard (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial short stature (finding) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short stature for age (finding) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Abnormal increase in body height (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Short stature of childhood (disorder) |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Below expected growth rate (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Excessive growth rate (finding) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Finding of fetal growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Normal fetal growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Poor clinical fetal growth |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tryptophanuria with dwarfism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Gigantism due to somatostatin deficiency |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Achondrogenesis, type IB |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aarskog syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Russell-Silver syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sotos' syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Robinow syndrome |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Maroteaux-Lamy syndrome, mild form |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Maroteaux-Lamy syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ateleiotic dwarfism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Arrested development following protein-calorie malnutrition (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Achondroplasia |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Shwachman syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Seckel syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Maroteaux-Lamy syndrome, severe form |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Diastrophic dysplasia |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Multiple epiphyseal dysplasia |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mauriac's syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Gigantism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Beckwith-Wiedemann syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Dyggve-Melchior-Clausen syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pituitary dwarfism with small sella turcica |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Rolland-Debuqois syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pituitary dwarfism with normal somatotropin level AND low somatomedin |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Werner syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spondyloepiphyseal dysplasia tarda |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nonfamilial asexual dwarfism (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infantile dwarf |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metatropic dysplasia (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metaphyseal chondrodysplasia, Jansen type (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Renal dwarfism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Laron-type isolated somatotropin defect |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Langer mesomelic dysplasia syndrome |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dolichocephalic dwarfism (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nievergelt's syndrome |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
De Lange syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Achondrogenesis, type IA |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Maroteaux-Lamy syndrome, intermediate form |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pituitary dwarfism with large sella turcica (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Geleophysic dysplasia |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metaphyseal chondrodysplasia |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metaphyseal chondrodysplasia, Schmid type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thanatophoric dysplasia |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rubinstein-Taybi syndrome |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Leri-Weill dyschondrosteosis |
Interprets |
False |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal recessive isolated somatotropin deficiency |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Asexual dwarfism |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Metaphyseal chondrodysplasia, McKusick type |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hallermann-Streiff syndrome (disorder) |
Interprets |
True |
Height / growth measure (observable entity) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |