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 |
| 6956891000146117 | X-gebonden syndroom van mentale retardatie, hypogammaglobulinemie en progressieve neurologische uitval | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495781000146113 | X-gebonden syndroom van verstandelijke beperking, hypogammaglobulinemie en progressieve neurologische uitval (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7719281000146110 | X-gebonden syndroom van verstandelijke beperking, hypogammaglobulinemie en progressieve neurologische uitval | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7797271000146115 | X-gebonden syndroom van verstandelijke handicap, hypogammaglobulinemie en progressieve neurologische uitval | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained 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) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | X-gebonden hypogammaglobulinemie | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Has definitional manifestation | Neutropenia | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Has interpretation | Below reference range | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Interprets | Neutrophil count | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| 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) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | Degenerative disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | 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) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR