1228860003: Spondyloepiphyseal dysplasia Stanescu type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu 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\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu 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\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Spondyloepiphyseal dysplasia Stanescu type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5063486019 Spondyloepiphyseal dysplasia Stanescu type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5063487011 Spondyloepiphyseal dysplasia Stanescu type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5063488018 SED (spondyloepiphyseal dysplasia) Stanescu type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400046010 A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400047018 A rare spondyloepiphyseal dysplasia characterised by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalised platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes. 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
Spondyloepiphyseal dysplasia Stanescu type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	Contracture of multiple joints	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	Degenerative polyarthritis	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	Spondyloepiphyseal dysplasia congenita group (disorder)	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	Chronic osteoarthritis	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	5
Spondyloepiphyseal dysplasia Stanescu type	Interprets	Range of joint movement	true	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia Stanescu type	Has interpretation	Decreased	true	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia Stanescu type	Occurrence	Congenital	true	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia Stanescu type	Finding site	Bone structure	true	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia Stanescu type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia Stanescu type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia Stanescu type	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Stanescu type	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Stanescu type	Finding site	Structure of joint region	false	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia Stanescu type	Associated morphology	Contracture	true	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia Stanescu type	Is a	Chronic arthropathy	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5063486019	Spondyloepiphyseal dysplasia Stanescu type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5063487011	Spondyloepiphyseal dysplasia Stanescu type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5063488018	SED (spondyloepiphyseal dysplasia) Stanescu type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400046010	A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400047018	A rare spondyloepiphyseal dysplasia characterised by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalised platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core