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724174003: 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
5403261018 A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403262013 A rare syndromic neurological disorder characterised by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431514010 Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
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 insensitive (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
5403261018 A rare syndromic neurological disorder characterized by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403262013 A rare syndromic neurological disorder characterised by the association of Möbius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. There have been no further reports since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452701001000115 Moebius-Syndrom - axonale Neuropathie - hypogonadotroper Hypogonadismus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954281000172117 syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968981000172112 syndrome de Möbius, neuropathie axonale, hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954281000172117 syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968981000172112 syndrome de Möbius, neuropathie axonale, hypogonadisme hypogonadotrope fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452701001000115 Moebius-Syndrom - axonale Neuropathie - hypogonadotroper Hypogonadismus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

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 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Is a Congenital facial nerve palsy true Inferred relationship Existential restriction modifier (core metadata concept)
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Finding site Facial nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 7
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 5
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Interprets Gross movement of body and limbs (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Finding site Axon structure (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Is a Gross movement of body and limbs - finding true Inferred relationship Existential restriction modifier (core metadata concept)
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder) Is a Nerve palsy true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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