278708009: Spondylodysplastic group (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Spondylodysplastic group
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondylodysplastic group
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondylodysplastic group
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Spondylodysplastic group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondylodysplastic group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondylodysplastic group
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

415709018 Spondylodysplastic group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

671898014 Spondylodysplastic group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5130401000241113 groupe spondylodysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondylodysplastic group	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Spondylodysplastic group	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondylodysplastic group	Occurrence	Congenital	false	Inferred relationship	Some
Spondylodysplastic group	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Spondylodysplastic group	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondylodysplastic group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondylodysplastic group	Finding site	Bone structure	false	Inferred relationship	Some	1
Spondylodysplastic group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondylodysplastic group	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondylodysplastic group	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondylodysplastic group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondylodysplastic group	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondylodysplastic group	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondylodysplastic group	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondylodysplasia, San Diego type	Is a	True	Spondylodysplastic group	Inferred relationship	Some
Spondylodysplasia, Torrance type	Is a	True	Spondylodysplastic group	Inferred relationship	Some
Spondylodysplasia, Luton type	Is a	True	Spondylodysplastic group	Inferred relationship	Some
Spondylodysplasia	Is a	True	Spondylodysplastic group	Inferred relationship	Some
A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995.	Is a	True	Spondylodysplastic group	Inferred relationship	Some
A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency.	Is a	True	Spondylodysplastic group	Inferred relationship	Some
A rare genetic syndrome characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described.	Is a	True	Spondylodysplastic group	Inferred relationship	Some
Brachyolmia	Is a	True	Spondylodysplastic group	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts.	Is a	True	Spondylodysplastic group	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
415709018	Spondylodysplastic group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
671898014	Spondylodysplastic group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5130401000241113	groupe spondylodysplasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module