773276004: Ehlers-Danlos syndrome spondylocheirodysplastic type (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\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic type
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic type
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic type

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic type
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic type
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic type
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic 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 spondylocheirodysplastic type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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 spondylocheirodysplastic type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3722859014 Ehlers-Danlos syndrome spondylocheirodysplastic type en Synonym Active Case sensitive SNOMED CT core

3722860016 Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5133792015 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome en Synonym Active Case sensitive SNOMED CT core

5133793013 Spondylocheirodysplastic Ehlers-Danlos syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3722845019 A subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ehlers-Danlos syndrome spondylocheirodysplastic type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome spondylocheirodysplastic type	Finding site	Skin structure	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ehlers-Danlos syndrome spondylocheirodysplastic type	Occurrence	Congenital	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Ehlers-Danlos syndrome spondylocheirodysplastic type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome spondylocheirodysplastic type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome spondylocheirodysplastic type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Ehlers-Danlos syndrome spondylocheirodysplastic type	Finding site	Bone structure	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	Ehlers-Danlos syndrome	false	Inferred relationship	Some
Ehlers-Danlos syndrome spondylocheirodysplastic type	Occurrence	Congenital	true	Inferred relationship	Some	1
Ehlers-Danlos syndrome spondylocheirodysplastic type	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome spondylocheirodysplastic type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome spondylocheirodysplastic type	Occurrence	Congenital	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome spondylocheirodysplastic type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	Spondylodysplastic Ehlers-Danlos syndrome	true	Inferred relationship	Some

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
3722859014	Ehlers-Danlos syndrome spondylocheirodysplastic type	en	Synonym	Active	Case sensitive	SNOMED CT core
3722860016	Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5133792015	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5133793013	Spondylocheirodysplastic Ehlers-Danlos syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3722845019	A subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2.	en	Definition	Active	Case sensitive	SNOMED CT core