93466004: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)

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

\Clinical history and observation findings\Functional finding\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing 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

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

\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 by body site (disorder)\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Disorder by body site (disorder)\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\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (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:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
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	GB English: Preferred (foundation metadata concept)
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	GB English: Acceptable (foundation metadata concept)
154724017	Perrault syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
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	GB English: Preferred (foundation metadata concept)
2518001000052116	gonaddysgenesi med hörselnedsättning, autosomalt recessiv nedärvning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	multipla medfödda missbildningar	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	medfödd missbildning	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	Developmental anomaly (morphologic abnormality)	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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