234416002: X-linked hypogammaglobulinemia (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

351215012 X-linked hypogammaglobulinaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

351216013 X-linked hypogammaglobulinemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

622731014 X-linked hypogammaglobulinemia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3530271000005114 X-bundet hypogammaglobulinæmi da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-bundet hypogammaglobulinæmi	Is a	Neutropenic disorder	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Finding site	Leukocyte	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Associated morphology	White blood cell abnormality	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Has definitional manifestation	Neutropenia (finding)	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
X-bundet hypogammaglobulinæmi	Has interpretation	Below reference range	false	Inferred relationship	Some	1
X-bundet hypogammaglobulinæmi	Interprets	Neutrophil count	false	Inferred relationship	Some	1
X-bundet hypogammaglobulinæmi	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.	Is a	False	X-bundet hypogammaglobulinæmi	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)