focal dermal hypoplasia

Preferred Label : focal dermal hypoplasia;

MeSH definition : A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.;

MeSH synonym : goltz gorlin syndrome; Goltz-Gorlin syndrome; gorlin syndrome, goltz; syndrome, Goltz-Gorlin; focal dermal hypoplasias; hypoplasias, focal dermal; goltz syndrome; goltzs syndrome; hypoplasia, focal dermal; dermal hypoplasia, focal; dermal hypoplasias, focal; goltz's syndrome; syndrome, goltz's; syndrome, goltz gorlin; syndrome, goltz;

MeSH annotation : do not confuse entry term GOLTZ-GORLIN SYNDROME with GORLIN-GOLTZ SYNDROME see BASAL CELL NEVUS SYNDROME;

Wikipedia link : https://en.wikipedia.org/wiki/Focal dermal hypoplasia;

Details

Origin ID

D005489;

UMLS CUI

C0016395;

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]
Automatic exact mappings (from CISMeF team)
- Basal cell nevus syndrome [PASCAL descriptor]
- Focal dermal hypoplasia [PASCAL descriptor]
- Focal dermal hypoplasia [ICD-11 More detail]
- PORCN wt Allele [NCIt concept]
- focal dermal hypoplasia [DO Concept]
DO Cross reference
- focal dermal hypoplasia [DO Concept]
False automatic mappings
- Basal cell nevus syndrome 1 [OMIM Phenotype]
- Gorlin syndrome (disorder) [SNOMED CT concept]
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
- gorlin syndrome [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Connective tissue disease with eye involvement [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Genetic mixed dermis disorder [ORDO Disease]
- Lens shape anomaly [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Mixed dermis disorder [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
Ne pas confondre avec
- basal cell nevus syndrome [MeSH Descriptor]
ORDO relation(s)
- Focal dermal hypoplasia [ORDO Disease]
Record concept(s)
- focal dermal hypoplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Focal Dermal Hypoplasia [NCIt concept]
- Focal dermal hypoplasia [ORDO Disease]
- Focal dermal hypoplasia [OMIM Phenotype]
- Focal dermal hypoplasia (disorder) [SNOMED CT concept]
- Goltz syndrome (disorder) [SNOMED CT concept]
- focal dermal hypoplasia [DO Concept]
- focal dermal hypoplasia disorder [Disease (Nov.)]
- goltz syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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