Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Chronic instability of knee |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Finger joint unstable |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Meniscus unstable |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hip unstable |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Temporomandibular joint unstable |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Chronic instability of joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Unstable knee |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Spinal instability (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Ankle instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Medial collateral ligament instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Lateral collateral ligament instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of lumbosacral joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Toe joint unstable |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of joint of left ankle (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Chronic ankle instability (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Elbow joint unstable |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Posterior cruciate instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of right sacroiliac joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Cervicothoracic instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acute ankle instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Wrist joint unstable |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of foot joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Recurrent instability of joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of joint of pelvis (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Anterior cruciate instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of left sacroiliac joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Pivot shift test - instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Bilateral ustabil hofte |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Thumb joint unstable (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of atlantooccipital joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Sacroiliac instability |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of hand joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Subluxatable hip |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Dislocatable hip |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Congenital instability of hip joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Nail regrowth due to and following chemical destruction of nail bed |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Sweet smelling urine (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Lack of ossification of supraoccipital bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of basioccipital bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Delayed epiphyseal closure |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Premature epiphyseal closure |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Lack of ossification of tympanic anulus |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of squamosal bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of alisphenoid bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Bone turnover rate disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Bone turnover rate decreased |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Lack of ossification of zygomatic bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Increased bone formation |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Lack of ossification of frontal bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
4 |
Knogleresorptionsforstyrrelse |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Defect of skull ossification |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Lack of ossification of vomer |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of basisphenoid bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Decreased maintenance of bone matrix |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Bone turnover rate increased |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Lack of ossification of interparietal bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of nasal bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of lacrimal bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of maxilla |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
forstyrrelse vedr. epifyselukning |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Bone turnover rate absent |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Late closure of anterior fontanel |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Decreased osteoblast function (finding) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Lack of ossification of exoccipital bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of palatine bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Lack of ossification of parietal bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Incomplete ossification of interparietal bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Lack of bone formation |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Lack of ossification of premaxilla |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
forstyrrelse af osteoid dannelse |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Lack of ossification of presphenoid bone |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
forstyrrelse af epifysedannelse |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Early fontanel closure |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
forstyrrelse af knoglevævsfunktion |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Reduced ossification |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Late fontanel closure |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14. |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
A rare genetic corneal dystrophy disorder with characteristics of corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Leukokeratosis of skin |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Leukokeratosis (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Chronic instability of right knee joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Chronic instability of left knee joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of bilateral patellofemoral joints (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of bilateral hip joints (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of right patellofemoral joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of bilateral shoulder joints (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of left patellofemoral joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of right elbow joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of right hip joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of left hip joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of right shoulder joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of left shoulder joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of left elbow joint (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
A rare genetic isolated palmoplantar keratoderma disorder with characteristics of non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with ortho hyperkeratosis featuring widening of the intercellular spaces and dis-adhesion of keratocytes in the upper epidermal layers. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Instability of joint of right foot |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of joint of left knee (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Instability of joint of left hand (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |