skin diseases, genetic

Preferred Label : skin diseases, genetic;

MeSH definition : Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.;

MeSH synonym : disease, genetic skin; diseases, genetic skin; skin disease, genetic; genetic skin diseases; genetic skin disease;

MeSH annotation : GEN or unspecified; prefer specifics; DF: SKIN DIS GENET; GEN or unspecified; prefer specifics; general or unspecified; prefer specifics;

Details

Origin ID

D012873;

UMLS CUI

C0037277;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
CISMeF manual mappings
- Genodermatosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital anomaly of skin (disorder) [SNOMED CT concept]
- genodermatosis [Disease (Nov.)]
DO Cross reference
- skin disease [DO Concept]
False automatic mappings
- congenital anomaly of skin, nos [SNOMED Notion]
Record concept(s)
- skin diseases, genetic [MeSH concept]
Related MeSH Supplementary Concept(s)
- Buschke-Ollendorff syndrome [MeSH Supplementary Concept]
- Dowling-Degos disease [MeSH Supplementary Concept]
- VEXAS syndrome [MeSH Supplementary Concept]
- actinic prurigo [MeSH Supplementary Concept]
- amyloidosis IX [MeSH Supplementary Concept]
- amyloidosis, cutaneous bullous [MeSH Supplementary Concept]
- amyloidosis, primary cutaneous [MeSH Supplementary Concept]
- annular erythema [MeSH Supplementary Concept]
- arterial tortuosity syndrome [MeSH Supplementary Concept]
- atrophia maculosa varioliformis cutis, familial [MeSH Supplementary Concept]
- basaloid follicular hamartoma syndrome, generalized, autosomal dominant [MeSH Supplementary Concept]
- collagenosis, familial reactive perforating [MeSH Supplementary Concept]
- dyschromatosis universalis hereditaria [MeSH Supplementary Concept]
- dyschromatosis universalis hereditaria 1 [MeSH Supplementary Concept]
- dyschromatosis universalis hereditaria 2 [MeSH Supplementary Concept]
- erythrokeratodermia with ataxia [MeSH Supplementary Concept]
- exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like [MeSH Supplementary Concept]
- fingerprints, absence of [MeSH Supplementary Concept]
- follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts [MeSH Supplementary Concept]
- gerodermia osteodysplastica [MeSH Supplementary Concept]
- histiocytic dermatoarthritis [MeSH Supplementary Concept]
- hyaluronan metabolism, defect in [MeSH Supplementary Concept]
- juvenile spring eruption of ears [MeSH Supplementary Concept]
- keratolytic winter erythema [MeSH Supplementary Concept]
- keratosis follicularis spinulosa decalvans, X-Linked [MeSH Supplementary Concept]
- keratosis linearis with ichthyosis congenita and sclerosing keratoderma [MeSH Supplementary Concept]
- leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis [MeSH Supplementary Concept]
- noduli cutanei, multiple, with urinary tract abnormalities [MeSH Supplementary Concept]
- oculotrichodysplasia [MeSH Supplementary Concept]
- onychogryposis, pedal, with keratosis plantaris and coarse hair [MeSH Supplementary Concept]
- orofaciodigital syndrome 9 [MeSH Supplementary Concept]
- osseous heteroplasia, progressive [MeSH Supplementary Concept]
- osteopoikilosis, isolated [MeSH Supplementary Concept]
- parana hard skin syndrome [MeSH Supplementary Concept]
- peeling skin syndrome [MeSH Supplementary Concept]
- perifolliculitis capitis abscedens et suffodiens, familial [MeSH Supplementary Concept]
- pigmentary disorder, reticulate, with systemic manifestations [MeSH Supplementary Concept]
- plasminogen deficiency, type I [MeSH Supplementary Concept]
- poikiloderma, hereditary sclerosing [MeSH Supplementary Concept]
- skin Fragility-Woolly hair syndrome [MeSH Supplementary Concept]
- stiff skin syndrome [MeSH Supplementary Concept]
- storm syndrome [MeSH Supplementary Concept]
- vitiligo, progressive, with mental retardation and urethral duplication [MeSH Supplementary Concept]
- vohwinkel syndrome, variant form [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- skin diseases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Genodermatosis [NCIt concept]
- Genodermatosis (disorder) [SNOMED CT concept]
- Rare genetic skin disease [ORDO Disease]
- genodermatosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- Genodermatosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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