778022009: Classical-like Ehlers-Danlos syndrome type 1 (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)\Classical-like Ehlers-Danlos syndrome type 1
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\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)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome (disorder)\Classical-like Ehlers-Danlos syndrome type 1

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

3737231017 Ehlers-Danlos syndrome due to tenascin-X deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3737233019 Ehlers-Danlos syndrome classic-like type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5250201010 Classical-like Ehlers-Danlos syndrome type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5250233018 Classical-like Ehlers-Danlos syndrome type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3737236010 A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3737237018 A type of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. 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
Classical-like Ehlers-Danlos syndrome type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Classical-like Ehlers-Danlos syndrome type 1	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Classical-like Ehlers-Danlos syndrome type 1	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Classical-like Ehlers-Danlos syndrome type 1	Finding site	Bone structure	true	Inferred relationship	Some	1
Classical-like Ehlers-Danlos syndrome type 1	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Classical-like Ehlers-Danlos syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	2
Classical-like Ehlers-Danlos syndrome type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Classical-like Ehlers-Danlos syndrome type 1	Finding site	Skin structure	true	Inferred relationship	Some	2
Classical-like Ehlers-Danlos syndrome type 1	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Classical-like Ehlers-Danlos syndrome type 1	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Classical-like Ehlers-Danlos syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Classical-like Ehlers-Danlos syndrome type 1	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Classical-like Ehlers-Danlos syndrome type 1	Is a	Ehlers-Danlos syndrome (disorder)	true	Inferred relationship	Some
Classical-like Ehlers-Danlos syndrome type 1	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Classical-like Ehlers-Danlos syndrome type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Classical-like Ehlers-Danlos syndrome type 1	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Classical-like Ehlers-Danlos syndrome type 1	Occurrence	Congenital	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737231017	Ehlers-Danlos syndrome due to tenascin-X deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737233019	Ehlers-Danlos syndrome classic-like type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5250201010	Classical-like Ehlers-Danlos syndrome type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5250233018	Classical-like Ehlers-Danlos syndrome type 1 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737236010	A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737237018	A type of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core