1251488008: Spondylodysplastic Ehlers-Danlos syndrome (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
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\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
\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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\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
\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
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\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
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\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
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\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
\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
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\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
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5133782011 Spondylodysplastic Ehlers-Danlos syndrome en Synonym Active Initial character case insensitive SNOMED CT core

5133783018 Spondylodysplastic Ehlers-Danlos syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

5133784012 A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet, muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and more variably osteopenia, delayed motor development and bowing of the limbs. Gene-specific features with variable presentation are additionally observed in each subtype. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylodysplastic Ehlers-Danlos syndrome	Is a	Ehlers-Danlos syndrome	true	Inferred relationship	Some
Spondylodysplastic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondylodysplastic Ehlers-Danlos syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondylodysplastic Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondylodysplastic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondylodysplastic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Spondylodysplastic Ehlers-Danlos syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Spondylodysplastic Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Spondylodysplastic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Spondylodysplastic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Spondylodysplastic Ehlers-Danlos syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Spondylodysplastic Ehlers-Danlos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Spondylodysplastic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	True	Spondylodysplastic Ehlers-Danlos syndrome	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type	Is a	True	Spondylodysplastic Ehlers-Danlos syndrome	Inferred relationship	Some
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Is a	True	Spondylodysplastic Ehlers-Danlos syndrome	Inferred relationship	Some

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5133782011	Spondylodysplastic Ehlers-Danlos syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5133783018	Spondylodysplastic Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5133784012	A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet, muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and more variably osteopenia, delayed motor development and bowing of the limbs. Gene-specific features with variable presentation are additionally observed in each subtype.	en	Definition	Active	Case sensitive	SNOMED CT core