Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Angiokeratoma of Mibelli |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Angiokeratoma of skin |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Mixed haemangioma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Acral pseudolymphomatous angiokeratoma of children (APACHE) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Fabry's disease |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Targetoid hemosiderotic hemangioma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Targetoid hemosiderotic hemangioma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Verrucous hemangioma of skin |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Angiokeratoma circumscriptum |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Senile angioma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Split thickness graft of skin to skin of shin |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Reconstruction of skin (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Arthritis mutilans (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Severe achondrolasia with developmental delay and acanthosis nigricans |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
Localised cutaneous erysipeloid |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Swab from pressure injury (specimen) |
Specimen source topography (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Gangrenous pressure injury |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Split thickness graft of skin to skin of foot (procedure) |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Split thickness graft of skin to skin of hand (procedure) |
Procedure site - Direct (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Acquired keratosis pilaris |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Attachment of flap graft to hand |
Procedure site - Indirect (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
5 |
Radial forearm free flap |
Procedure site - Indirect (attribute) |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Malignant cylindroma of skin (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Excision of dermatofibroma (procedure) |
Procedure site - Direct (attribute) |
True |
Skin structure |
Inferred relationship |
Some |
1 |
Fibrous corn (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Fibrous corn (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Lichen sclerosus of penis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Xanthoma of lower eyelid (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
Xanthoma of upper eyelid |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
|
Cutis laxa with osteodystrophy |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Lamelløs iktyose OG invagineret trikoreksi-syndrom |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Multiple lentigines syndrome (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Severe ichthyoses |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Café-au-lait macules with temporal dysrhythmia (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Flat birthmark |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Cutis laxa, recessive, type I |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Limb reduction-ichthyosis syndrome (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Mibellis porokeratose, unilateral lineær type |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Neurofibromatosis type 2 |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
Aplasia cutis congenita |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Giant porokeratosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
lokaliseret hudatrofi på abdominalvæggen |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
1 |
Netherton syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Mibellis porokeratose, dissemineret superficiel type |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Autosomal dominant ichthyosis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Localized congenital cutis laxa (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Mibellis porokeratose, plaquetype |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Congenital anomaly of skin |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutaneous lesion resulting from spina bifida (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Lamellar ichthyosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Cutaneous lesion resulting from spinal dysraphism (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Pindsvinemenneske |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Congenital pigmentary skin anomalies |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Ichthyosis hystrix Bäfverstedt type (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Axillary freckling due to neurofibromatosis (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
3 |
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported. |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutaneous syndrome with ichthyosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Localised bullous ichthyosiform erythroderma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Incontinentia pigmenti syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutis laxa, autosomal dominant |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Atypical ichthyosis vulgaris with hypogonadism |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Aplasia cutis in Johanson-Blizzard syndrome (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Neurofibromatose, type 3 |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Café au lait-pletter uden neurofibromatose |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Congenital ectodermal defect |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Senter syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutis laxa, recessive, type II |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Erythrodermic lamellar ichthyosis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Focal dermal hypoplasia |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Ichthyosis vulgaris |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Dominant congenital ichthyosiform erythroderma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Rud's syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Follicular ichthyosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Congenital absence of skin on scalp with epidermal naevi |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Autosomal recessive ichthyosis (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Non-erythrodermic lamellar ichthyosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Congenital non bullous ichthyosiform erythroderma |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Ichthyosis bullosa of Siemens |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Brugsch's syndrome |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Ichthyosis congenita with biliary atresia |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
4 |
Ichthyosis hystrix gravior, Rheydts type |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
X-linked ichthyosis with steryl-sulphatase deficiency |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Cutis laxa, autosomal recessive (disorder) |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Hereditary neurocutaneous angiomata (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Ichthyosis linearis circumflexa |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Porokeratosis of Mibelli |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Segmental neurofibromatosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Bullous ichthyosiform erythroderma |
Finding site |
True |
Skin structure |
Inferred relationship |
Some |
2 |
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |
Autosomal dominant lamellar ichthyosis |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
3 |
Aplasia cutis in Trisomy 13 syndrome (disorder) |
Finding site |
False |
Skin structure |
Inferred relationship |
Some |
2 |