773276004: Ehlers-Danlos syndrome spondylocheirodysplastic 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)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\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 (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\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)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\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 (disorder)\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 (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\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 foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\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)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic 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)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Spondylodysplastic Ehlers-Danlos syndrome\Ehlers-Danlos syndrome spondylocheirodysplastic type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3722859014 Ehlers-Danlos syndrome spondylocheirodysplastic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3722860016 Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5133792015 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5133793013 Spondylocheirodysplastic Ehlers-Danlos syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 (attribute)	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 (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	Connective tissue hereditary disorder (disorder)	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 (disorder)	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 (attribute)	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 (morphologic abnormality)	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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3722859014	Ehlers-Danlos syndrome spondylocheirodysplastic type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3722860016	Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5133792015	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5133793013	Spondylocheirodysplastic Ehlers-Danlos syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core