721092005: syndroom van gebrekkige ontwikkeling, doofheid en dystonie (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
\Head finding (finding)\Finding of head region\Vestibular system finding (finding)\Vestibular system disorder\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Vestibular system disorder\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)

\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Developmental malformation, deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Ear finding\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Developmental malformation, deafness, dystonia syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)

\Functional finding\Finding of sensory function\...

\Disorder of sensory function (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)

\Hearing finding (finding)\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Developmental malformation, deafness, dystonia syndrome (disorder)

\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Vestibular system disorder\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of head (disorder)\Vestibular system disorder\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Generalized dystonia (disorder)\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Developmental malformation, deafness, dystonia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Developmental malformation, deafness, dystonia 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

3323461013 Developmental malformation, deafness, dystonia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323462018 Developmental malformation, deafness, dystonia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6997981000146118 syndroom van gebrekkige ontwikkeling, doofheid en dystonie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6997991000146116 syndroom van malformaties, doofheid en dystonie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6998001000146112 syndroom van gebrekkige ontwikkeling, doofheid en dystonie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6998011000146114 syndroom van misvormingen, doofheid en dystonie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3323463011 This syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323464017 This syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Sensory hearing loss	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Generalized dystonia (disorder)	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	4
Developmental malformation, deafness, dystonia syndrome (disorder)	Finding site	Cochlear structure	true	Inferred relationship	Some	2
Developmental malformation, deafness, dystonia syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Developmental malformation, deafness, dystonia syndrome (disorder)	Interprets	observatie betreffende functioneren	false	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	5
Developmental malformation, deafness, dystonia syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Developmental malformation, deafness, dystonia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Developmental malformation, deafness, dystonia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Developmental malformation, deafness, dystonia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	5
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Disorder of sensory function (disorder)	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	Congenital hearing loss (disorder)	false	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
3323461013	Developmental malformation, deafness, dystonia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323462018	Developmental malformation, deafness, dystonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6997981000146118	syndroom van gebrekkige ontwikkeling, doofheid en dystonie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6997991000146116	syndroom van malformaties, doofheid en dystonie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6998001000146112	syndroom van gebrekkige ontwikkeling, doofheid en dystonie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6998011000146114	syndroom van misvormingen, doofheid en dystonie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323463011	This syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323464017	This syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. It has been described in two monozygotic twins. The syndrome is caused by a missense point mutation in the gene coding for beta-actin, a nonmuscle actin isoform. Mutations in nonmuscle actin isoforms may be associated with developmental anomalies and neurological disorders such as dystonia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core