724174003: syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope (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\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\constatation à propos du mouvement\constatation à propos de la mobilité globale du corps et des membres\paralysie\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation à propos du mouvement\Movement disorder\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation à propos du mouvement\trouble moteur\paralysie\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation générale à propos des tissus mous\Peripheral nerve finding\constatation à propos du septième nerf crânien\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Facial nerve disorder (disorder)\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\constatation à propos d'une région de la tête et du cou\constatation à propos du septième nerf crânien\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\Neurological finding\Cranial nerve finding\constatation à propos du septième nerf crânien\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Neurological finding\Motor nervous system finding\trouble moteur\paralysie\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Nerve palsy\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\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)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Congenital disease\Congenital disorder of facial nerve\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Movement disorder\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\paralysie faciale\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

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

3431514010 Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3431515011 Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

760331000241112 syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

954281000172117 syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

968981000172112 syndrome de Möbius, neuropathie axonale, hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3431516012 A very rare syndrome with characteristics of the association of Mobius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. All of the reported cases were sporadic. 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
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	interprète (attribut)	Movement (observable entity)	true	Inferred relationship	Some	3
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	localisation d'une constatation (attribut)	Axon structure (cell structure)	true	Inferred relationship	Some	1
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	est un(e) (attribut)	Peripheral axonal neuropathy	true	Inferred relationship	Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	est un(e) (attribut)	Congenital facial nerve palsy	true	Inferred relationship	Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	est un(e) (attribut)	Congenital hypogonadotropic hypogonadism (disorder)	true	Inferred relationship	Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	localisation d'une constatation (attribut)	Facial nerve structure	true	Inferred relationship	Some	4
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	6
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal endocrine structure	true	Inferred relationship	Some	6
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	7
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	localisation d'une constatation (attribut)	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	7
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	a pour interprétation (attribut)	Absent	true	Inferred relationship	Some	5
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	interprète (attribut)	mobilité globale du tronc et des membres	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3431514010	Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3431515011	Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
760331000241112	syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
954281000172117	syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
968981000172112	syndrome de Möbius, neuropathie axonale, hypogonadisme hypogonadotrope	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3431516012	A very rare syndrome with characteristics of the association of Mobius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. All of the reported cases were sporadic.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core