724174003: Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\Finding of movement (finding)\Gross movement of body and limbs - finding\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Paralysis\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\General finding of soft tissue\Peripheral nerve finding\Seventh cranial nerve finding\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\Finding of head and neck region\Facial nerve disorder (disorder)\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of head and neck region\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Finding of head and neck region\Seventh cranial nerve finding\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\Neurological finding\Cranial nerve finding\Seventh cranial nerve finding\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)

\Disease\Disorder of embryonic structure (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Nerve palsy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Axonal neuropathy\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Peripheral axonal neuropathy\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of body system\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\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Movement disorder\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Facial palsy\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of soft tissue\Peripheral nerve disease\Facial nerve disorder (disorder)\Congenital disorder of facial nerve\Congenital facial nerve palsy (disorder)\Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)
\Disease\Disorder of soft tissue\Peripheral nerve disease\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

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

3983791000052118 syndrom med Möbius syndrom, axonal neuropati och hypergonadotrop hypogonadism sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Is a	Peripheral axonal neuropathy	true	Inferred relationship	Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Is a	Congenital facial nerve palsy (disorder)	true	Inferred relationship	Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Is a	Congenital hypogonadotropic hypogonadism (disorder)	true	Inferred relationship	Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Finding site	Facial nerve structure	true	Inferred relationship	Some	4
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	6
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	6
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	7
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Has interpretation	Absent	true	Inferred relationship	Some	5
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Interprets	Gross movement of body and limbs	true	Inferred relationship	Some	5
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Interprets	Movement	true	Inferred relationship	Some	3
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Finding site	Axon structure	true	Inferred relationship	Some	1
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Is a	Gross movement of body and limbs - finding	true	Inferred relationship	Some
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Is a	Nerve palsy	true	Inferred relationship	Some

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
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
3983791000052118	syndrom med Möbius syndrom, axonal neuropati och hypergonadotrop hypogonadism	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)