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725137007: syndroom van neutropenie, monocytopenie en doofheid (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3487932011 Neutropenia, monocytopenia, deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3487933018 Neutropenia, monocytopenia, deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7184611000146114 syndroom van neutropenie, monocytopenie en doofheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7184621000146116 syndroom van neutropenie, monocytopenie en gehoorverlies nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7184631000146119 syndroom van neutropenie, monocytopenie en doofheid (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3487934012 This syndrome has characteristics of neutropenia with myeloid marrow hypoplasia, monocytopenia and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. 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
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a Congenital immunodeficiency disease false Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a Congenital deafness true Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a Neutropenic disorder false Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Has definitional manifestation Neutropenia false Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Neutropenia, monocytopenia, deafness syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Neutropenia, monocytopenia, deafness syndrome (disorder) Finding site Inner ear structure (body structure) false Inferred relationship Some 3
Neutropenia, monocytopenia, deafness syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 1
Neutropenia, monocytopenia, deafness syndrome (disorder) Interprets Neutrophil count true Inferred relationship Some 1
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a Neutropenia false Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Finding site Inner ear structure (body structure) true Inferred relationship Some 2
Neutropenia, monocytopenia, deafness syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Neutropenia, monocytopenia, deafness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Neutropenia, monocytopenia, deafness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a Congenital neutropenia true Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Is a Congenital anomaly of inner ear true Inferred relationship Some
Neutropenia, monocytopenia, deafness syndrome (disorder) Interprets Hearing true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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