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 |
| 3331419018 | Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331420012 | Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331421011 | Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331422016 | This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3331423014 | This syndrome combines agammaglobulinaemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinaemia due to a defect in early B-cell maturation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of skin | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | morphologie associée (attribut) | Congenital premature fusion | true | Inferred relationship | Some | 3 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | localisation d'une constatation (attribut) | Joint structure of suture of skull | true | Inferred relationship | Some | 3 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | morphologie associée (attribut) | inflammation | false | Inferred relationship | Some | 2 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 4 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | inflammation d'un organe corporel spécifique | false | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | morphologie associée (attribut) | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 5 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 5 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | syndrome de craniosynostose (trouble) | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Congenital agammaglobulinemia | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Inflammatory dermatosis (disorder) | true | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | false | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some | ||
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 6 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 6 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | morphologie associée (attribut) | Congenital premature fusion | false | Inferred relationship | Some | 7 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | localisation d'une constatation (attribut) | Joint structure of suture of skull | false | Inferred relationship | Some | 7 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | morphologie associée (attribut) | inflammation | false | Inferred relationship | Some | 5 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 5 | |
| Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR