Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3312822016 | A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401774016 | A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401775015 | A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3312818014 | Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3312819018 | Hydrocephalus with cleft palate and joint contracture syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3312820012 | Aase Smith type 1 syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3312837017 | Aase Smith I syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Dandy-Walker syndrome | true | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Cleft palate | true | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Arthrogryposis (disorder) | false | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | dysgenese | false | Inferred relationship | Some | 8 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 8 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Limb structure | false | Inferred relationship | Some | 8 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 9 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 10 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | kongenit manglende sammenvoksning | false | Inferred relationship | Some | 13 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | false | Inferred relationship | Some | 13 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Palatal structure | false | Inferred relationship | Some | 13 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | dysgenese | false | Inferred relationship | Some | 10 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Face structure | false | Inferred relationship | Some | 10 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | kongenit kavitation | false | Inferred relationship | Some | 8 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Infratentorial brain structure | true | Inferred relationship | Some | 8 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | false | Inferred relationship | Some | 12 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Contracture | true | Inferred relationship | Some | 11 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Joint structure | false | Inferred relationship | Some | 11 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Kongenit dilatation | false | Inferred relationship | Some | 12 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 12 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 14 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Aplasia | false | Inferred relationship | Some | 9 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | kongenit anomali | false | Inferred relationship | Some | 14 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 14 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Foramen of Magendie | false | Inferred relationship | Some | 14 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | kongenit kavitation | false | Inferred relationship | Some | 15 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Infratentorial brain structure | false | Inferred relationship | Some | 15 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Palatal structure | true | Inferred relationship | Some | 1 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Limb structure | true | Inferred relationship | Some | 4 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 8 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Joint structure | false | Inferred relationship | Some | 2 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 4 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 6 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Congenital malrotation | true | Inferred relationship | Some | 5 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 6 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 5 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Fourth ventricle structure | true | Inferred relationship | Some | 7 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | kongenit kavitation | false | Inferred relationship | Some | 7 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Cystic dilatation | true | Inferred relationship | Some | 8 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Cystic dilatation | true | Inferred relationship | Some | 7 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Interprets | Range of joint movement | true | Inferred relationship | Some | 9 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Structure of joint region | true | Inferred relationship | Some | 2 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Has interpretation | Decreased | true | Inferred relationship | Some | 9 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 10 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 10 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Bone structure of head | true | Inferred relationship | Some | 10 | |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Congenital abnormality of skull and face bones | true | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Is a | Extrapyramidal disease | true | Inferred relationship | Some | ||
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. | Finding site | Joint structure of multiple body sites (body structure) | true | Inferred relationship | Some | 11 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)