1228860003: Spondyloepiphyseal dysplasia Stanescu type (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Contracture of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type

\Finding of movement\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\Movement disorder\Contracture of joint\Contracture of multiple joints\Spondyloepiphyseal dysplasia Stanescu type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Arthropathy\Osteoarthritis\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Arthropathy\Osteoarthritis\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Osteoarthritis\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Osteoarthritis\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type

\Disease\Disorder of joint region\Arthropathy\Osteoarthritis\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of joint region\Arthropathy\Osteoarthritis\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Osteoarthritis of multiple joints\Degenerative polyarthritis\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\Degenerative disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Chronic osteoarthritis\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Osteoarthritis\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Osteoarthritis\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Osteoarthritis\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Osteoarthritis of multiple joints\Degenerative polyarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\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\Chronic osteoarthritis\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia Stanescu type

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5063486019 Spondyloepiphyseal dysplasia Stanescu type en Synonym Active Initial character case insensitive SNOMED CT core

5063487011 Spondyloepiphyseal dysplasia Stanescu type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

5063488018 SED (spondyloepiphyseal dysplasia) Stanescu type en Synonym Active Case sensitive SNOMED CT core

5063489014 A rare spondyloepiphyseal dysplasia with characteristics of 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 Case sensitive SNOMED CT core

5063490017 A rare spondyloepiphyseal dysplasia with characteristics of 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 Case sensitive 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	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	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Clinical course	Progressive	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	Pathological developmental process	true	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia Stanescu type	Finding site	Joint structure of multiple body sites	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	true	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia Stanescu type	Associated morphology	Contracture	true	Inferred relationship	Some	3

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
5063486019	Spondyloepiphyseal dysplasia Stanescu type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5063487011	Spondyloepiphyseal dysplasia Stanescu type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5063488018	SED (spondyloepiphyseal dysplasia) Stanescu type	en	Synonym	Active	Case sensitive	SNOMED CT core
5063489014	A rare spondyloepiphyseal dysplasia with characteristics of 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	Case sensitive	SNOMED CT core
5063490017	A rare spondyloepiphyseal dysplasia with characteristics of 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	Case sensitive	SNOMED CT core