725137007: Neutropenia, monocytopenia, deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\...

\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome

\White blood cell number - finding\White blood cell count abnormal\...

\Decreased blood leucocyte number\Granulocyte count below reference range\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Decreased blood leucocyte number\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome

\Neutrophil count abnormal\Neutrophil count below reference range\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome

\Finding of blood, lymphatics and immune system\Blood disease\White blood cell disorder\...

\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome

\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome

\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\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
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\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

\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome

\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome
\Hearing loss\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome

\Disease\Disorder of immune function\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
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of immune function\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Disease\Blood disease\White blood cell disorder\Disorder of neutrophils\Quantitative abnormality of granulocytes\Quantitative disorder of neutrophils\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Disease\Blood disease\White blood cell disorder\Leucopenia\Neutropenic disorder\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\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
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Neutropenia, monocytopenia, deafness syndrome
\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
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\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
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital deafness\Neutropenia, monocytopenia, deafness syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Congenital neutropenia\Neutropenia, monocytopenia, deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Neutropenia, monocytopenia, deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of inner ear\Neutropenia, monocytopenia, deafness syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3487933018 Neutropenia, monocytopenia, deafness syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neutropenia, monocytopenia, deafness syndrome	Finding site	Inner ear structure	true	Inferred relationship	Some	2
Neutropenia, monocytopenia, deafness syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Neutropenia, monocytopenia, deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neutropenia, monocytopenia, deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Neutropenia, monocytopenia, deafness syndrome	Is a	Congenital neutropenia	true	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	3
Neutropenia, monocytopenia, deafness syndrome	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Is a	Congenital anomaly of inner ear	true	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Neutropenia, monocytopenia, deafness syndrome	Is a	Congenital immunodeficiency disease	false	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Is a	Congenital deafness	true	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Is a	Neutropenic disorder	false	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Has definitional manifestation	Neutrophil count below reference range	false	Inferred relationship	Some
Neutropenia, monocytopenia, deafness syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Neutropenia, monocytopenia, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Neutropenia, monocytopenia, deafness syndrome	Finding site	Inner ear structure	false	Inferred relationship	Some	3
Neutropenia, monocytopenia, deafness syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Neutropenia, monocytopenia, deafness syndrome	Interprets	Neutrophil count	true	Inferred relationship	Some	1
Neutropenia, monocytopenia, deafness syndrome	Is a	Neutrophil count below reference range	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3487932011	Neutropenia, monocytopenia, deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3487933018	Neutropenia, monocytopenia, deafness syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core