725137007: Neutropenia, monocytopenia, deafness syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\...
• \Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \White blood cell number - finding\White blood cell count outside reference range\...
• \Blood leukocyte number below reference range\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Blood leukocyte number below reference range\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Neutrophil count outside reference range\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\...
• \Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Disorder of phagocytic cell number\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)

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
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
4463081000172112	syndroom van neutropenie, monocytopenie en gehoorverlies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4463091000172110	syndroom van neutropenie, monocytopenie en doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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