FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

763668009: Lichtenstein syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643231015 Lichtenstein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643232010 Lichtenstein syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404135017 A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404136016 A rare genetic disease characterised by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lichtenstein syndrome Is a Congenital immunodeficiency disease true Inferred relationship Some
Lichtenstein syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lichtenstein syndrome Is a Phagocytic cell dysfunction true Inferred relationship Some
Lichtenstein syndrome Is a Hereditary disorder of immune system true Inferred relationship Some
Lichtenstein syndrome Is a Disorder of immune structure (disorder) true Inferred relationship Some
Lichtenstein syndrome Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Lichtenstein syndrome Occurrence Congenital true Inferred relationship Some 1
Lichtenstein syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

Back to Start