93466004: autosomaal recessieve gonadale dysgenesie met auditieve disfunctie (aandoening)

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

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Developmental disorder\Developmental hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	Multiple congenital malformations	false	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Occurrence	Congenital	false	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Occurrence	Congenital	true	Inferred relationship	Some	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Occurrence	Congenital	true	Inferred relationship	Some	2
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Interprets	Hearing	true	Inferred relationship	Some	3
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
154722018	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
154723011	Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
154724017	Perrault syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
837205013	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6645111000146110	autosomaal recessieve gonadale dysgenesie met auditieve disfunctie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6645121000146117	autosomaal recessieve gonadale dysgenesie met auditieve disfunctie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6645141000146111	syndroom van Perrault	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6645151000146114	autosomaal recessieve gonadale dysgenesie met sensorineurale doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6645161000146112	Perrault-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8339781000146118	autosomaal recessieve gonadale dysgenesie met perceptief gehoorverlies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)