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 |
| 3315189016 | X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315190013 | X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315191012 | X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 753591000241118 | syndrome de déficience intellectuelle liée à l'X-hypogammaglobulinémie-détérioration neurologique progressive (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 892831000172113 | syndrome de déficience intellectuelle liée à l'X-hypogammaglobulinémie-détérioration neurologique progressive | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3315192017 | This syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315193010 | This syndrome is characterised by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinaemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration.This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | false | Inferred relationship | Some | 3 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | trouble neurologique chronique | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | Chronic mental disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | affection dégénérative | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | X-linked hypogammaglobulinemia | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est défini par la manifestation de (attribut) | neutropénie | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | interprète (attribut) | Neutrophil count | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR