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

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

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

\Functional finding\Hearing finding\Hearing disorder (disorder)\...

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

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

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

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 (disorder)	Is a	Multiple congenital malformations	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Is a	Congenital malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
154722018	Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character case insensitive (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
3382631001000118	Perrault-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6230591000241116	dysgénésie gonadique avec dysfonction auditive de transmission autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6230601000241111	syndrome de Perrault	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6230611000241113	syndrome de dysgénésie gonadique type XX et surdité	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6230591000241116	dysgénésie gonadique avec dysfonction auditive de transmission autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6230601000241111	syndrome de Perrault	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6230611000241113	syndrome de dysgénésie gonadique type XX et surdité	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382631001000118	Perrault-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module