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 |
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 | 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) | survenue (attribut) | congénital | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | 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) | est un(e) (attribut) | Inherited arthrogryposis | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un membre | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | 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) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | face | 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | true | Inferred relationship | Some | 5 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Fourth ventricle structure | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 7 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | interprète (attribut) | Range of joint movement | true | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Structure of joint region | true | Inferred relationship | Some | 2 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | a pour interprétation (attribut) | 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) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse de la tête (structure corporelle) | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | anomalie congénitale des os du crâne et du visage | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | Extrapyramidal disease | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | syndrome de Dandy-Walker | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | fente palatine | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | Arthrogryposis | false | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un membre | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Congenital failure of fusion | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | false | Inferred relationship | Some | 13 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 10 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Infratentorial brain structure | true | Inferred relationship | Some | 8 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | false | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 11 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 12 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Aplasia | false | Inferred relationship | Some | 9 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Congenital anomaly | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Foramen of Magendie | false | Inferred relationship | Some | 14 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 15 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Infratentorial brain structure | false | Inferred relationship | Some | 15 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) | localisation d'une constatation (attribut) | Palatal structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets