719800009: Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Nail finding\Disorder of nail\...

\Genetic disorder of nail\Deafness with onychodystrophy syndrome\DOORS syndrome

\Developmental abnormality of nail\Congenital anomaly of nail\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\DOORS syndrome

\Dystrophia unguium\Deafness with onychodystrophy syndrome\DOORS syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Deafness with onychodystrophy syndrome\DOORS syndrome

\Functional finding\Decline in functional status\Decreased hearing\Deafness with onychodystrophy syndrome\DOORS syndrome
\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Deafness with onychodystrophy syndrome\DOORS syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Deafness with onychodystrophy syndrome\DOORS syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\DOORS syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome\DOORS syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Deafness with onychodystrophy syndrome\DOORS syndrome
\Functional finding\Hearing finding\Decreased hearing\Deafness with onychodystrophy syndrome\DOORS syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Deafness with onychodystrophy syndrome\DOORS syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\DOORS syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\DOORS syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\DOORS syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\DOORS syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\DOORS syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\DOORS syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\DOORS syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3321966019 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321967011 DOORS syndrome en Synonym Active Case sensitive SNOMED CT core

3322719010 Autosomal recessive deafness onychodystrophy syndrome en Synonym Active Case insensitive SNOMED CT core

3322824019 DOOR syndrome en Synonym Active Case sensitive SNOMED CT core

3322825018 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3322826017 A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
DOORS syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
DOORS syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
DOORS syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
DOORS syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
DOORS syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
DOORS syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
DOORS syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
DOORS syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	4
DOORS syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
DOORS syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
DOORS syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
DOORS syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
DOORS syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
DOORS syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
DOORS syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2
DOORS syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
DOORS syndrome	Is a	Deafness with onychodystrophy syndrome	true	Inferred relationship	Some
DOORS syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
DOORS syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	3
DOORS syndrome	Finding site	Ear structure	false	Inferred relationship	Some	5
DOORS syndrome	Finding site	Skin appendage structure	false	Inferred relationship	Some
DOORS syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
DOORS syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	7
DOORS syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
DOORS syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	8
DOORS syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	8
DOORS syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	6
DOORS syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	5
DOORS syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
DOORS syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
DOORS syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
DOORS syndrome	Is a	Dystrophia unguium	false	Inferred relationship	Some
DOORS syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
DOORS syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
DOORS syndrome	Is a	Hearing loss associated with syndrome	false	Inferred relationship	Some
DOORS syndrome	Is a	Ectodermal dysplasia with nail defect	false	Inferred relationship	Some
DOORS syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
DOORS syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
DOORS syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
DOORS syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
DOORS syndrome	Is a	Congenital osteodystrophy	true	Inferred relationship	Some
DOORS syndrome	Finding site	Ear structure	false	Inferred relationship	Some
DOORS syndrome	Interprets	Hearing	true	Inferred relationship	Some	6
DOORS syndrome	Interprets	Functional observable	false	Inferred relationship	Some
DOORS syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
DOORS syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
DOORS syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
DOORS syndrome	Occurrence	Congenital	false	Inferred relationship	Some	10
DOORS syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	7
DOORS syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Some	7
DOORS syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some	8
DOORS syndrome	Finding site	Bone structure	false	Inferred relationship	Some	8
DOORS syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some	9
DOORS syndrome	Finding site	Nail structure	false	Inferred relationship	Some	9
DOORS syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	10
DOORS syndrome	Finding site	Skin structure	false	Inferred relationship	Some	10
DOORS syndrome	Is a	Intellectual disability	false	Inferred relationship	Some

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
3321966019	Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321967011	DOORS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322719010	Autosomal recessive deafness onychodystrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322824019	DOOR syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322825018	Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322826017	A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively.	en	Definition	Active	Case sensitive	SNOMED CT core