733113002: syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire (trouble)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\...

\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome
\Disease\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)\Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1007681000172114 syndrome de Chang-Davidson-Carlson fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3498781017 Hypogonadotropic hypogonadism retinitis pigmentosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498782012 Chang Davidson Carlson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498783019 Hypogonadotropic hypogonadism retinitis pigmentosa syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

762971000241114 syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

971381000172112 syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3499981015 This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499982010 This syndrome is characterised by the association of hypogonadotropic hypogonadism (with primary amenorrhoea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. 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
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	est un(e) (attribut)	rétinite pigmentaire (trouble)	true	Inferred relationship	Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	est un(e) (attribut)	Reproductive system hereditary disorder	true	Inferred relationship	Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	est un(e) (attribut)	Congenital hypogonadotropic hypogonadism (disorder)	true	Inferred relationship	Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	3
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	localisation d'une constatation (attribut)	structure de la rétine	true	Inferred relationship	Some	3
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	5
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	localisation d'une constatation (attribut)	Gonadal endocrine structure	true	Inferred relationship	Some	4
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	localisation d'une constatation (attribut)	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1007681000172114	syndrome de Chang-Davidson-Carlson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3498781017	Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498782012	Chang Davidson Carlson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498783019	Hypogonadotropic hypogonadism retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
762971000241114	syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
971381000172112	syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3499981015	This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499982010	This syndrome is characterised by the association of hypogonadotropic hypogonadism (with primary amenorrhoea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core