From HPO
Carcinoma- MedGen UID:
- 2867
- •Concept ID:
- C0007097
- •
- Neoplastic Process
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).
Squamous cell carcinoma- MedGen UID:
- 2874
- •Concept ID:
- C0007137
- •
- Neoplastic Process
The presence of squamous cell carcinoma of the skin.
Palmoplantar keratoderma- MedGen UID:
- 1635750
- •Concept ID:
- C4551675
- •
- Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Finger joint hypermobility- MedGen UID:
- 154359
- •Concept ID:
- C0574974
- •
- Finding
Amyloidosis- MedGen UID:
- 272
- •Concept ID:
- C0002726
- •
- Disease or Syndrome
The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.
Cutaneous macular amyloidosis- MedGen UID:
- 639717
- •Concept ID:
- C0546393
- •
- Disease or Syndrome
A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.
Chronic rhinitis- MedGen UID:
- 3086
- •Concept ID:
- C0008711
- •
- Disease or Syndrome
Chronic inflammation of the nasal mucosa.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Ectodermal dysplasia- MedGen UID:
- 8544
- •Concept ID:
- C0013575
- •
- Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Parakeratosis- MedGen UID:
- 10572
- •Concept ID:
- C0030436
- •
- Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Epidermal acanthosis- MedGen UID:
- 65136
- •Concept ID:
- C0221270
- •
- Finding
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Keratosis pilaris- MedGen UID:
- 82664
- •Concept ID:
- C0263383
- •
- Disease or Syndrome
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Phrynoderma- MedGen UID:
- 83101
- •Concept ID:
- C0334013
- •
- Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Corneal neovascularization- MedGen UID:
- 43103
- •Concept ID:
- C0085109
- •
- Disease or Syndrome
Ingrowth of new blood vessels into the cornea.
Limbal stem cell deficiency- MedGen UID:
- 295775
- •Concept ID:
- C1561989
- •
- Disease or Syndrome
A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.
Visual impairment- MedGen UID:
- 777085
- •Concept ID:
- C3665347
- •
- Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Neoplasm