783097004: Stickler syndrome type 3 (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Stickler syndrome type 3
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stickler syndrome type 3
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stickler syndrome type 3
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Ear and auditory finding\Hearing finding\Decreased hearing\Stickler syndrome type 3

\Functional finding\Decline in functional status\Decreased hearing\Stickler syndrome type 3
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stickler syndrome type 3
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Functional finding\Hearing finding\Decreased hearing\Stickler syndrome type 3

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Stickler syndrome type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Stickler syndrome type 3
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Stickler syndrome type 3
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Stickler syndrome type 3
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Stickler syndrome type 3
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Stickler syndrome type 3
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Stickler syndrome type 3
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Disease\Developmental disorder\Developmental hereditary disorder\Stickler syndrome type 3
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Stickler syndrome type 3

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3757572012 Stickler syndrome non-ocular type en Synonym Active Entire term case sensitive SNOMED CT core module

3757573019 Stickler syndrome type 3 (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3757574013 Stickler syndrome type 3 en Synonym Active Entire term case sensitive SNOMED CT core module

4945009011 Autosomal dominant otospondylomegaepiphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

4945010018 AD OSMED - autosomal dominant otospondylomegaepiphyseal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Stickler syndrome type 3	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Stickler syndrome type 3	Is a	Spondyloepiphyseal dysplasia congenita group	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Stickler syndrome type 3	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Stickler syndrome type 3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Stickler syndrome type 3	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Stickler syndrome type 3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Stickler syndrome type 3	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	3
Stickler syndrome type 3	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Stickler syndrome type 3	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Stickler syndrome type 3	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Stickler syndrome type 3	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	4
Stickler syndrome type 3	Is a	Disorder of ear	false	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Is a	Decreased hearing	true	Inferred relationship	Existential restriction modifier
Stickler syndrome type 3	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
Stickler syndrome type 3	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757572012	Stickler syndrome non-ocular type	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3757573019	Stickler syndrome type 3 (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3757574013	Stickler syndrome type 3	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4945009011	Autosomal dominant otospondylomegaepiphyseal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4945010018	AD OSMED - autosomal dominant otospondylomegaepiphyseal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module