718763005: Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Spondyloepiphyseal dysplasia MacDermot type
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Spondyloepiphyseal dysplasia MacDermot type
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Spondyloepiphyseal dysplasia MacDermot type
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Spondyloepiphyseal dysplasia MacDermot type
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Spondyloepiphyseal dysplasia MacDermot type

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Spondyloepiphyseal dysplasia MacDermot type

\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Spondyloepiphyseal dysplasia MacDermot type

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Spondyloepiphyseal dysplasia MacDermot type

\Sensorineural hearing loss\Spondyloepiphyseal dysplasia MacDermot type

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia MacDermot type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot 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 MacDermot type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot 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 MacDermot type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Spondyloepiphyseal dysplasia MacDermot type

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3313774016 Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3313775015 Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome en Synonym Active Case insensitive SNOMED CT core

3313776019 Spondyloepiphyseal dysplasia MacDermot type en Synonym Active Initial character case insensitive SNOMED CT core

3313777011 Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia MacDermot type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia MacDermot type	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia MacDermot type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia MacDermot type	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia MacDermot type	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia MacDermot type	Finding site	Structure of auditory system	true	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia MacDermot type	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Interprets	Hearing	true	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia MacDermot type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Has interpretation	Impaired	true	Inferred relationship	Some	4
Spondyloepiphyseal dysplasia MacDermot type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	Myopia	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	Spondyloepiphyseal dysplasia congenita	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Finding site	Structure of visual system	true	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia MacDermot type	Finding site	Ear structure	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia MacDermot type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia MacDermot type	Occurrence	Congenital	false	Inferred relationship	Some	3
Spondyloepiphyseal dysplasia MacDermot type	Finding site	Bone structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313774016	Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313775015	Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3313776019	Spondyloepiphyseal dysplasia MacDermot type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3313777011	Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life.	en	Definition	Active	Case sensitive	SNOMED CT core