719096006: Brittle cornea syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Corneal thinning\Brittle cornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Corneal thinning\Brittle cornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Brittle cornea syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Brittle cornea syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Brittle cornea syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brittle cornea syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Brittle cornea syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Brittle cornea syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of cornea\Brittle cornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Brittle cornea syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Brittle cornea syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3314968018 Brittle cornea syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3314969014 Brittle cornea syndrome en Synonym Active Case insensitive SNOMED CT core

3314970010 Ehlers-Danlos syndrome type 6B en Synonym Active Case sensitive SNOMED CT core

3314971014 Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome with characteristics of severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brittle cornea syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Brittle cornea syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Brittle cornea syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Brittle cornea syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Brittle cornea syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Brittle cornea syndrome	Finding site	Corneal structure	false	Inferred relationship	Some	2
Brittle cornea syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Brittle cornea syndrome	Finding site	Corneal structure	false	Inferred relationship	Some	3
Brittle cornea syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Brittle cornea syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Brittle cornea syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Brittle cornea syndrome	Is a	Congenital skeletal dysplasia	false	Inferred relationship	Some
Brittle cornea syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Brittle cornea syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Brittle cornea syndrome	Finding site	Connective tissue structure	false	Inferred relationship	Some	4
Brittle cornea syndrome	Is a	Anomaly of eye	false	Inferred relationship	Some
Brittle cornea syndrome	Is a	Corneal thinning	true	Inferred relationship	Some
Brittle cornea syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Brittle cornea syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Brittle cornea syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Brittle cornea syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Brittle cornea syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Brittle cornea syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Brittle cornea syndrome	Finding site	Corneal structure	true	Inferred relationship	Some	4
Brittle cornea syndrome	Is a	Congenital anomaly of cornea	true	Inferred relationship	Some
Brittle cornea syndrome	Is a	Disorder of cornea	false	Inferred relationship	Some
Brittle cornea syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Brittle cornea syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Brittle cornea syndrome	Is a	Ehlers-Danlos syndrome	true	Inferred relationship	Some
Brittle cornea syndrome	Finding site	Corneal structure	false	Inferred relationship	Some
Brittle cornea syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Brittle cornea syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Brittle cornea syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Brittle cornea syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Brittle cornea syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Brittle cornea syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3314968018	Brittle cornea syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3314969014	Brittle cornea syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3314970010	Ehlers-Danlos syndrome type 6B	en	Synonym	Active	Case sensitive	SNOMED CT core
3314971014	Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome with characteristics of severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness.	en	Definition	Active	Case sensitive	SNOMED CT core