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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3321967011 DOORS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322719010 Autosomal recessive deafness onychodystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322824019 DOOR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322825018 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402209013 A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402210015 A rare multiple congenital anomalies-intellectual disability syndrome characterised by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321966019 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321966019 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321967011 DOORS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322719010 Autosomal recessive deafness onychodystrophy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322719010 Autosomal recessive deafness onychodystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322824019 DOOR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322825018 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322825018 Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402209013 A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402210015 A rare multiple congenital anomalies-intellectual disability syndrome characterised by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3421281001000110 DOORS-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986391000241117 syndrome DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986401000241119 syndrome de surdité, onychodystrophie, ostéodystrophie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986411000241117 syndrome de surdité, onycho-ostéodystrophie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986391000241117 syndrome DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986401000241119 syndrome de surdité, onychodystrophie, ostéodystrophie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986411000241117 syndrome de surdité, onycho-ostéodystrophie et déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421281001000110 DOORS-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
DOORS syndrome Is a Sensorineural hearing loss false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Dystrophia unguium false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Hearing loss associated with syndrome false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Ectodermal dysplasia with nail defect false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Auditory system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Is a Congenital osteodystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 6
DOORS syndrome Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
DOORS syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
DOORS syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
DOORS syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
DOORS syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 7
DOORS syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
DOORS syndrome Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 8
DOORS syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
DOORS syndrome Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 9
DOORS syndrome Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
DOORS syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 10
DOORS syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 10
DOORS syndrome Is a Intelligenzminderung false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
DOORS syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
DOORS syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
DOORS syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
DOORS syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
DOORS syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
DOORS syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
DOORS syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
DOORS syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
DOORS syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
DOORS syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
DOORS syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
DOORS syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
DOORS syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
DOORS syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
DOORS syndrome Is a Deafness with onychodystrophy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
DOORS syndrome Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
DOORS syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
DOORS syndrome Finding site Skin appendage structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
DOORS syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
DOORS syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 7
DOORS syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
DOORS syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 8
DOORS syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
DOORS syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 6
DOORS syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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