Focal Facial Dermal Dysplasias

Preferred Label : Focal Facial Dermal Dysplasias;

MeSH definition : A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4.;

MeSH synonym : Facial Ectodermal Dysplasias; Dysplasia, Facial Ectodermal; Ectodermal Dysplasia, Facial; Ectodermal Dysplasias, Facial; Facial Ectodermal Dysplasia;

MeSH hyponym : Setleis Syndrome; FFDD, Type 3; Type 3 FFDD; Hereditary Symmetrical Aplastic Nevi of Temples; FFDD, Type 1; Type 1 FFDD; Bitemporal Aplasia Cutis Congenita; Focal Facial Dermal Dysplasia Type 1; Brauer Syndrome; Syndrome, Brauer; FFDD, Type 2; Type 2 FFDD; Bitemporal Forceps Marks Syndrome; Brauer-Setleis Syndrome; Brauer Setleis Syndrome; Focal Facial Dermal Dysplasia, Type II; Focal Facial Dermal Dysplasia Type 2; FFDD, Type 4; Type 4 FFDD; Type 4 FFDDs; Focal Facial Dermal Dysplasia Type 4;

Details

Origin ID

D000090303;

UMLS CUI

C2936827;

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)
- Bitemporal scars with abnormal eyelashes (disorder) [SNOMED CT concept]
- Facial ectodermal dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial focal facial dermal dysplasia (disorder) [SNOMED CT concept]
- Focal facial dermal dysplasia [OMIM phenotypic series]
- Focal facial dermal dysplasia [ORDO Disease]
- Focal facial dermal dysplasia (disorder) [SNOMED CT concept]
False automatic mappings
- Bitemporal forceps marks [HPO term]
Record concept(s)
- Focal Facial Dermal Dysplasia 1 [MeSH concept]
- Focal Facial Dermal Dysplasia 2 [MeSH concept]
- Focal Facial Dermal Dysplasia 3 [MeSH concept]
- Focal Facial Dermal Dysplasia 4 [MeSH concept]
- Focal Facial Dermal Dysplasias [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial focal facial dermal dysplasia (disorder) [SNOMED CT concept]
- Focal facial dermal dysplasia [ORDO Disease]
- Focal facial dermal dysplasia (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Focal facial dermal dysplasia 1, brauer type [OMIM Phenotype]
- Focal facial dermal dysplasia 2, brauer-setleis type [OMIM Phenotype]
- Focal facial dermal dysplasia 3, setleis type [OMIM Phenotype]
- Focal facial dermal dysplasia type I [ORDO Disease]
- Focal facial dermal dysplasia type I (disorder) [SNOMED CT concept]
- Focal facial dermal dysplasia type II [ORDO Disease]
- Focal facial dermal dysplasia type III [ORDO Disease]
- Focal facial dermal dysplasia type III (disorder) [SNOMED CT concept]
- Setleis syndrome [PASCAL descriptor]

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