720861000: Ehlers-Danlos syndrome progeroid type (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type

\General finding of soft tissue\Skin finding\Disorder of skin\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\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\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Integumentary system finding\Skin finding\Disorder of skin\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\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\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\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\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Congenital disease\Inborn error of metabolism\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Ehlers-Danlos syndrome progeroid type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome progeroid type

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

Descriptions:

Id Description Lang Type Status Case? Module

3322329017 Ehlers-Danlos syndrome progeroid type (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3322330010 Ehlers-Danlos syndrome progeroid type en Synonym Active Case sensitive SNOMED CT core

3322331014 Defective biosynthesis of proteodermatan sulfate en Synonym Active Case insensitive SNOMED CT core

3322332019 Defective biosynthesis of proteodermatan sulphate en Synonym Active Case insensitive SNOMED CT core

3322333012 Galactosyltransferase I deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3322334018 Xylosylprotein 4-beta-galactosyltransferase deficiency en Synonym Active Case insensitive SNOMED CT core

4575313016 B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome) en Synonym Active Case sensitive SNOMED CT core

3322335017 A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome progeroid type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type	Finding site	Bone structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type	Interprets	Bone density scan	true	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type	Is a	Spondylodysplastic Ehlers-Danlos syndrome	true	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type	Is a	Dysplasia with increased bone density	true	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type	Is a	Premature ageing syndrome	true	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type	Occurrence	Congenital	false	Inferred relationship	Some	4
Ehlers-Danlos syndrome progeroid type	Finding site	Skin structure	false	Inferred relationship	Some	3
Ehlers-Danlos syndrome progeroid type	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
3322329017	Ehlers-Danlos syndrome progeroid type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3322330010	Ehlers-Danlos syndrome progeroid type	en	Synonym	Active	Case sensitive	SNOMED CT core
3322331014	Defective biosynthesis of proteodermatan sulfate	en	Synonym	Active	Case insensitive	SNOMED CT core
3322332019	Defective biosynthesis of proteodermatan sulphate	en	Synonym	Active	Case insensitive	SNOMED CT core
3322333012	Galactosyltransferase I deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322334018	Xylosylprotein 4-beta-galactosyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4575313016	B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome)	en	Synonym	Active	Case sensitive	SNOMED CT core
3322335017	A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars.	en	Definition	Active	Case sensitive	SNOMED CT core