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 |
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 |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Dandy-Walker syndrome | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Cleft palate | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Arthrogryposis | false | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Limb structure | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Palatal structure | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Foramen of Magendie | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 15 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 15 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Palatal structure | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Joint structure | false | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Fourth ventricle structure | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Finding site | Bone structure of head | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Congenital abnormality of skull and face bones | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | Is a | Extrapyramidal disease | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | 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)