717911008: Blepharocheilodontic syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Blepharocheilodontic syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Blepharocheilodontic syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharocheilodontic syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Blepharocheilodontic syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Blepharocheilodontic syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Blepharocheilodontic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Blepharocheilodontic syndrome (disorder)
\Disease\Developmental disorder\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Blepharocheilodontic syndrome (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Blepharocheilodontic syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Blepharocheilodontic syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Blepharocheilodontic syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Blepharocheilodontic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Blepharocheilodontic syndrome (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	2
Blepharocheilodontic syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Blepharocheilodontic syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Blepharocheilodontic syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Blepharocheilodontic syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Blepharocheilodontic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Blepharocheilodontic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Blepharocheilodontic syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Blepharocheilodontic syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Blepharocheilodontic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Blepharocheilodontic syndrome (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Blepharocheilodontic syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Blepharocheilodontic syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
10047631000172112	syndrome d'Elsching	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10047641000172117	syndrome blépharo-cheilo-dontique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10047651000172115	syndrome de fente labiopalatine, ectropion de la paupière et dents coniques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5031341000172113	syndroom van Elsching	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5031351000172110	blefaro-cheilo-odontisch syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5031361000172112	BCD-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5031371000172115	Elsching-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5031381000172117	syndroom van schisis, ectropion en conische tanden	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5031391000172119	blefarocheilodontisch syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)