1251499005: Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of spine\Curvature of spine\...

\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

\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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

\Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Metabolic disease\Metabolic disease of collagen\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Metabolic disease\Metabolic bone disease\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Kyphosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Kyphoscoliosis deformity of spine\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related 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\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Ehlers-Danlos syndrome\Spondylodysplastic Ehlers-Danlos syndrome\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

5133834012 Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome en Synonym Active Initial character case insensitive SNOMED CT core

5133835013 Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

5133836014 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome en Synonym Active Case sensitive SNOMED CT core

5133837017 Ehlers-Danlos syndrome progeroid type 2 en Synonym Active Case sensitive SNOMED CT core

5133838010 A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 with characteristics of short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalised osteoporosis), joint contractures and ascending aortic aneurysm. The disorder is due to variants of the B3GALT6 gene (1p36.33), encoding for galactosyltransferase II. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

5133839019 A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 with characteristics of short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. The disorder is due to variants of the B3GALT6 gene (1p36.33), encoding for galactosyltransferase II. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Is a	Spondylodysplastic Ehlers-Danlos syndrome	true	Inferred relationship	Some
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Is a	Kyphoscoliosis deformity of spine	true	Inferred relationship	Some
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Interprets	Body height measure	true	Inferred relationship	Some	5
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	4
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	3
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Associated morphology	Lateral abnormal curvature	true	Inferred relationship	Some	3
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	6
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	Associated morphology	Anteroposterior abnormal curvature	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
5133834012	Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5133835013	Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5133836014	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5133837017	Ehlers-Danlos syndrome progeroid type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
5133838010	A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 with characteristics of short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalised osteoporosis), joint contractures and ascending aortic aneurysm. The disorder is due to variants of the B3GALT6 gene (1p36.33), encoding for galactosyltransferase II. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
5133839019	A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 with characteristics of short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. The disorder is due to variants of the B3GALT6 gene (1p36.33), encoding for galactosyltransferase II. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core