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 |
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 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 |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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. | Is a | Peripheral axonal neuropathy | true | Inferred relationship | Some | ||
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. | Is a | Congenital facial nerve palsy | true | Inferred relationship | Some | ||
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. | Is a | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
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. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
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. | Finding site | Facial nerve structure | true | Inferred relationship | Some | 4 | |
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. | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
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. | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 6 | |
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. | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
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. | Finding site | Structure of distal part of pituitary | true | Inferred relationship | Some | 7 | |
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. | Has interpretation | Absent | true | Inferred relationship | Some | 5 | |
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. | Interprets | Gross movement of body and limbs | true | Inferred relationship | Some | 5 | |
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. | Interprets | mouvement | false | Inferred relationship | Some | 3 | |
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. | Finding site | Axon structure | true | Inferred relationship | Some | 1 | |
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. | Is a | Gross movement of body and limbs - finding | true | Inferred relationship | Some | ||
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. | Is a | Nerve palsy | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)