783097004: Stickler syndrome type 3 (disorder)

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

\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3 (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Stickler syndrome type 3 (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3 (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Stickler syndrome type 3 (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Stickler syndrome type 3 (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Stickler syndrome type 3 (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Stickler syndrome type 3 (disorder)

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Stickler syndrome type 3 (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Stickler syndrome type 3 (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stickler syndrome type 3 (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Stickler syndrome type 3 (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Disorder of ear\Stickler syndrome type 3 (disorder)
\fynd som rör öra och hörsel\Ear finding\Disorder of ear\Stickler syndrome type 3 (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Stickler syndrome type 3 (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Stickler syndrome type 3 (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Stickler syndrome type 3 (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Stickler syndrome type 3 (disorder)

\Hearing loss\Hearing loss associated with syndrome\Stickler syndrome type 3 (disorder)
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Stickler syndrome type 3 (disorder)

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3757572012 Stickler syndrome non-ocular type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

3757574013 Stickler syndrome type 3 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3757575014 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4342941000052115 Sticklers syndrom, typ 3 sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Stickler syndrome type 3 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Stickler syndrome type 3 (disorder)	Is a	Spondyloepiphyseal dysplasia congenita group (disorder)	true	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Stickler syndrome type 3 (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Stickler syndrome type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Stickler syndrome type 3 (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Stickler syndrome type 3 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Stickler syndrome type 3 (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	3
Stickler syndrome type 3 (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Stickler syndrome type 3 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Stickler syndrome type 3 (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Stickler syndrome type 3 (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Stickler syndrome type 3 (disorder)	Is a	Disorder of ear	true	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757572012	Stickler syndrome non-ocular type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757573019	Stickler syndrome type 3 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757574013	Stickler syndrome type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757575014	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4342941000052115	Sticklers syndrom, typ 3	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)