717911008: Blepharocheilodontic syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Blepharocheilodontic syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharocheilodontic syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Blepharocheilodontic syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Blepharocheilodontic syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Blepharocheilodontic syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Blepharocheilodontic syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Blepharocheilodontic syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Blepharocheilodontic syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Blepharocheilodontic syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Blepharocheilodontic syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3324378011 Blepharocheilodontic syndrome en Synonym Active Case insensitive SNOMED CT core

3324382013 Blepharo-cheilo-odontic syndrome en Synonym Active Case insensitive SNOMED CT core

3324383015 Clefting, ectropion, conical teeth syndrome en Synonym Active Case insensitive SNOMED CT core

3324384014 Elsching syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324377018	Blepharocheilodontic syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324378011	Blepharocheilodontic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324382013	Blepharo-cheilo-odontic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324383015	Clefting, ectropion, conical teeth syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3324384014	Elsching syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core