Focal facial dermal dysplasia 2, brauer-setleis type

Preferred Label : Focal facial dermal dysplasia 2, brauer-setleis type;

Symbol : FFDD2;

CISMeF acronym : FFDD2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Brauer-setleis syndrome;

Description : The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD2 is an autosomal dominant disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin.;

Prefixed ID : %614973;

Details

Origin ID

614973;

UMLS CUI

C3554245;

CISMeF manual mappings
- Focal Facial Dermal Dysplasia 2 [MeSH concept]
Currated CISMeF NLP mapping
- Bitemporal scars with abnormal eyelashes (disorder) [SNOMED CT concept]
- Focal facial dermal dysplasia type II [ORDO Disease]
- Focal facial dermal dysplasia type II (disorder) [SNOMED CT concept]
ORDO concept(s)
- Focal facial dermal dysplasia [ORDO Disease]
- Focal facial dermal dysplasia type II [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Focal facial dermal dysplasia type II (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Focal Facial Dermal Dysplasias [MeSH Descriptor]
- Focal facial dermal dysplasia [ORDO Disease]

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