Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Height centile |
Is a |
True |
Height / growth measure |
Inferred relationship |
Some |
|
Growth velocity centile |
Is a |
True |
Height / growth measure |
Inferred relationship |
Some |
|
Child height centile |
Is a |
True |
Height / growth measure |
Inferred relationship |
Some |
|
Body height measure |
Is a |
True |
Height / growth measure |
Inferred relationship |
Some |
|
Increased body growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Decreased body growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Appropriate growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Height increased |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Constitutional tall stature |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
General finding of height |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Tall stature |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Er blevet mindre i højden |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
|
General growth finding |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Has grown in height |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Has not grown in height |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Short stature |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
|
Body growth problem |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Finding of measures of body height and growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Normal height |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Body height normal for age |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Normal growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Decrease in height |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Tall for age |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Height / growth finding |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Linear growth of stature completed (finding) |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Growth pattern (observable entity) |
Is a |
True |
Height / growth measure |
Inferred relationship |
Some |
|
Body height abnormal for age (finding) |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
|
Height and weight |
Is a |
True |
Height / growth measure |
Inferred relationship |
Some |
|
Height below average (finding) |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
1 |
Height above average (finding) |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
objektivt: højde |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
1 |
objektivt: højde mere end 20 % under middel |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
1 |
objektivt: højde 10-20 % under middel |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
1 |
objektivt: højde inden for 10 % af middelværdi |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
2 |
objektivt: højde 10-20 % over middel |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
2 |
objektivt: højde mere end 20 % over middel |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
2 |
objektivt: tab af højde |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
1 |
objektivt: manglende vækst |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
1 |
On examination - height NOS |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
|
Abnormal height in relation to growth / age standard (finding) |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Familial short stature (finding) |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
1 |
Short stature for age (finding) |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
1 |
Abnormal increase in body height (finding) |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Short stature of childhood (disorder) |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
3 |
Rate of growth or growth velocity slower than expected, or weight gain that is suboptimal in comparison with goal or reference standard. |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Excessive growth rate (finding) |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Finding of fetal growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Normal fetal growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Poor clinical fetal growth |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Tryptophanuria with dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Gigantism due to somatostatin deficiency |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
4 |
Achondrogenesis, type IB |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Aarskog syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Russell-Silver syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Sotos' syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
5 |
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
6 |
Maroteaux-Lamy syndrome, mild form |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Maroteaux-Lamy syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Ateleiotic dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Arrested development following protein-calorie malnutrition (disorder) |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
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 (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
5 |
Achondroplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
1 |
Shwachman syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
5 |
Seckel syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Maroteaux-Lamy syndrome, severe form |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Diastrophic dysplasia |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
4 |
Multiple epiphyseal dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Mauriac's syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
5 |
Gigantism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Beckwith-Wiedemann syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
7 |
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive. |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Pituitary dwarfism with small sella turcica |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Rolland-Debuqois syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Pituitary dwarfism with normal somatotropin level AND low somatomedin |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Werner syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Spondyloepiphyseal dysplasia tarda |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Nonfamilial asexual dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Infantile dwarf (disorder) |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Metatropic dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Metaphyseal chondrodysplasia, Jansen type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Renal dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Laron-type isolated somatotropin defect |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Langer mesomelic dysplasia syndrome |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
3 |
Dolichocephalic dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Nievergelt's syndrome |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
3 |
De Lange syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Multiple malformation syndrome, small stature, without skeletal dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Achondrogenesis, type IA |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Maroteaux-Lamy syndrome, intermediate form |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Pituitary dwarfism with large sella turcica |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Geleophysic dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Metaphyseal chondrodysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Metaphyseal chondrodysplasia, Schmid type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Thanatophoric dysplasia |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Rubinstein-Taybi syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Leri-Weill dyschondrosteosis |
Interprets |
False |
Height / growth measure |
Inferred relationship |
Some |
3 |
Autosomal recessive isolated somatotropin deficiency |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Asexual dwarfism |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
2 |
Metaphyseal chondrodysplasia, McKusick type |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
3 |
Hallermann-Streiff syndrome |
Interprets |
True |
Height / growth measure |
Inferred relationship |
Some |
4 |