717911008: Blepharocheilodontic syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Blepharocheilodontic syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Blepharocheilodontic syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Blepharocheilodontic syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Blepharocheilodontic syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Blepharocheilodontic syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Blepharocheilodontic syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Blepharocheilodontic syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324377018	Blepharocheilodontic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324378011	Blepharocheilodontic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324382013	Blepharo-cheilo-odontic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324383015	Clefting, ectropion, conical teeth syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324384014	Elsching syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324385010	An ectodermal dysplasia syndrome with the association of abnormalities of the eyelids, lips, and teeth. These anomalies include lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly. Prevalence is unknown. Over 50 cases have been described in literature to date. Transmission is autosomal dominant with 100% penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start