725137007: Neutropenia, monocytopenia, deafness syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Disorder of inner ear (disorder)\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \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)
• \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)
• \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)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Disorder of inner ear (disorder)\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\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)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Disorder of inner ear (disorder)\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of inner ear (disorder)\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\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 cell count abnormal\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\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\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\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\Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \White blood cell number - finding\White cell count abnormal\...
• \Decreased blood leukocyte number\Granulocyte count below reference range (finding)\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Decreased blood leukocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Neutrophil count abnormal\Neutropenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory 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\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\Disorder of auditory system\Disorder of ear\Disorder of inner ear (disorder)\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Ear finding (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\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Disorder of inner ear (disorder)\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (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 (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of cellular component of blood\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\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 (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 (disorder)\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (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 (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 (disorder)\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Disorder of inner ear (disorder)\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 (disorder)\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome (disorder)
• \Disease\Developmental disorder (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 (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
5403407018	Neutropenia-monocytopenia-deafness syndrome is characterized by 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
5403408011	Neutropenia-monocytopenia-deafness syndrome is characterised by 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
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
5403407018	Neutropenia-monocytopenia-deafness syndrome is characterized by 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
5403408011	Neutropenia-monocytopenia-deafness syndrome is characterised by 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
3438151001000117	Neutropenie - Monozytopenie - Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438151001000117	Neutropenie - Monozytopenie - Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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