10033001: Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\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\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

17513011 Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

517721011 Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4422591000241112 syndrome d'Ehlers-Danlos de type cyphoscoliotique fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Some
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Occurrence	Congenital	false	Inferred relationship	Some
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Is a	Ehlers-Danlos syndrome (disorder)	true	Inferred relationship	Some
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Bone structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Skin structure	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Bone structure	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Skin structure	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Finding site	Bone structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

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
17513011	Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
517721011	Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4422591000241112	syndrome d'Ehlers-Danlos de type cyphoscoliotique	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module