Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 783058007

SNOMED CT code

SNOMED code

783058007

name

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

status

active

date introduced

2019-07-31

fully specified name(s)

Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)

synonyms

Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
Severe congenital neutropenia type 4
Severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome

attributes - group1

Interprets

Neutrophil count 30630007

Has interpretation

Below reference range 281300000

attributes - group3

Pathological process

Abnormal immune process 769247005

attributes - group2

Occurrence

Congenital 255399007

parents

Autosomal recessive hereditary disorder 85995004
Congenital neutropenia 89655007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 783058007

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Congenital immunodeficiency disease 36138009
Congenital neutropenia 89655007
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 783058007

ancestors

sorted most to least specific

Autosomal recessive hereditary disorder 85995004
Congenital neutropenia 89655007
Autosomal hereditary disorder 1899006
Neutropenic disorder 303011007
Congenital immunodeficiency disease 36138009
Hereditary disease 32895009
Quantitative disorder of neutrophils 105601003
Neutropenia 165517008
Leukopenia 84828003
Congenital disease 66091009
Genetic disease 782964007
Quantitative abnormality of granulocytes 105602005
Neutrophil count outside reference range 165519006
Granulocyte count below reference range 416955003
Disorder of neutrophils 105600002
Blood leukocyte number below reference range 419188005
Disorder of phagocytic cell number 234574006
White blood cell disorder 54097007
White blood cell count outside reference range 165509000
Phagocytic cell defect 234573000
Cytopenia 50820005
Disorder of cellular component of blood 414022008
White blood cell number - finding 365630000
Primary immune deficiency disorder 58606001
Blood cell count outside reference range 762656009
Measurement finding below reference range 442686002
Finding of blood, lymphatics and immune system 299691001
Immunodeficiency disorder 234532001
Measurement finding outside reference range 442096005
Disorder of immune function 414029004
Measurement finding 118245000
Disease 64572001
Evaluation finding 441742003
Procedure related finding 127325009
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal recessive hereditary disorder 85995004

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 783058007

SNOMED CT code