Onycho-tricho-dysplasia neutropenia syndrome 1003381002

SNOMED CT code

SNOMED code

1003381002

name

Onycho-tricho-dysplasia neutropenia syndrome

status

active

date introduced

2021-01-31

fully specified name(s)

Onycho-tricho-dysplasia neutropenia syndrome (disorder)

synonyms

Onycho-tricho-dysplasia neutropenia syndrome
Trichothiodystrophy type G

attributes - group1

Associated morphology

Dysplasia 25723000

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Ectoderm structure 63206006

attributes - group2

Finding site

Hair shaft structure 37111008

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

attributes - group3

Has interpretation

Below reference range 281300000

Interprets

Neutrophil count 30630007

attributes - group4

Pathological process

Abnormal immune process 769247005

parents

Hereditary white blood cell disorder 414395005
Trichothiodystrophy 723551003
Congenital neutropenia 89655007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of blood, lymphatics and immune system 299691001
Disorder of cellular component of blood 414022008
White blood cell disorder 54097007
Hereditary white blood cell disorder 414395005
Onycho-tricho-dysplasia neutropenia syndrome 1003381002

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Trichothiodystrophy 723551003
Onycho-tricho-dysplasia neutropenia syndrome 1003381002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Congenital immunodeficiency disease 36138009
Congenital neutropenia 89655007
Onycho-tricho-dysplasia neutropenia syndrome 1003381002

ancestors

sorted most to least specific

Hereditary white blood cell disorder 414395005
Trichothiodystrophy 723551003
Congenital neutropenia 89655007
Hereditary disorder of immune system 363138005
Developmental hereditary disorder 363070008
Neutropenic disorder 303011007
Hereditary disorder of cellular element of blood 414393003
Hereditary disorder of the integument 363185004
Genetic defect of hair shaft 402774006
Congenital anomaly of hair 65033000
Autosomal recessive hereditary disorder 85995004
Ectodermal dysplasia 8654005
Congenital immunodeficiency disease 36138009
Hereditary disorder by system 363137000
Quantitative disorder of neutrophils 105601003
Disorder of hair shaft 267811000
Autosomal hereditary disorder 1899006
Genodermatosis 239001006
Neutropenia 165517008
Leukopenia 84828003
Congenital ectodermal defect 254154003
Hereditary disease 32895009
Quantitative abnormality of granulocytes 105602005
Disorder of hair 279425004
Congenital anomaly of skin 199879009
Neutrophil count outside reference range 165519006
Granulocyte count below reference range 416955003
Disorder of embryonic structure 609521009
Genetic disease 782964007
Disorder of neutrophils 105600002
Disorder of skin appendage 238714008
Congenital anomaly of integument 38164009
Blood leukocyte number below reference range 419188005
Disorder of phagocytic cell number 234574006
Hair finding 247522004
White blood cell disorder 54097007
Disorder of skin 95320005
White blood cell count outside reference range 165509000
Phagocytic cell defect 234573000
Congenital malformation 276654001
Cytopenia 50820005
Disorder of cellular component of blood 414022008
Skin finding 106076001
Developmental disorder 5294002
White blood cell number - finding 365630000
Primary immune deficiency disorder 58606001
Disorder of skin and/or subcutaneous tissue 80659006
Congenital disease 66091009
Blood cell count outside reference range 762656009
Measurement finding below reference range 442686002
Finding of blood, lymphatics and immune system 299691001
Disorder of integument 128598002
Immunodeficiency disorder 234532001
Skin AND/OR mucosa finding 415531008
Measurement finding outside reference range 442096005
Disorder of soft tissue 19660004
Disorder of immune function 414029004
Disorder of body system 362965005
Integumentary system finding 106077005
Measurement finding 118245000
General finding of soft tissue 248402002
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

Finding of blood, lymphatics and immune system 299691001

Disorder of cellular component of blood 414022008

White blood cell disorder 54097007

Hereditary white blood cell disorder 414395005

Onycho-tricho-dysplasia neutropenia syndrome 1003381002

SNOMED CT code