721092005: Developmental malformation, deafness, dystonia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Generalised dystonia\Developmental malformation, deafness, dystonia syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\Developmental malformation, deafness, dystonia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\Developmental malformation, deafness, dystonia syndrome

\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\Developmental malformation, deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Vestibular system finding\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\Developmental malformation, deafness, dystonia syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome
\Finding of head and neck region\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

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

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Developmental malformation, deafness, dystonia syndrome

\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Developmental malformation, deafness, dystonia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Developmental malformation, deafness, dystonia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Developmental malformation, deafness, dystonia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Developmental malformation, deafness, dystonia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome
\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
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Developmental malformation, deafness, dystonia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\Developmental malformation, deafness, dystonia syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome
\Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Generalised dystonia\Developmental malformation, deafness, dystonia syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of inner ear\Labyrinthine disorder\Sensory hearing loss\Developmental malformation, deafness, dystonia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Developmental malformation, deafness, dystonia syndrome
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Generalised dystonia\Developmental malformation, deafness, dystonia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Developmental malformation, deafness, dystonia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Developmental malformation, deafness, dystonia syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3323462018 Developmental malformation, deafness, dystonia syndrome en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental malformation, deafness, dystonia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Developmental malformation, deafness, dystonia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Developmental malformation, deafness, dystonia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Developmental malformation, deafness, dystonia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Interprets	Movement	true	Inferred relationship	Some	5
Developmental malformation, deafness, dystonia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Is a	Sensory hearing loss	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Is a	Generalised dystonia	true	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	4
Developmental malformation, deafness, dystonia syndrome	Finding site	Cochlear structure	true	Inferred relationship	Some	2
Developmental malformation, deafness, dystonia syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Developmental malformation, deafness, dystonia syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Developmental malformation, deafness, dystonia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323461013	Developmental malformation, deafness, dystonia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323462018	Developmental malformation, deafness, dystonia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core