Rothmund Thomson syndrome type 1 1003922004

SNOMED CT code

SNOMED code

1003922004

name

Rothmund Thomson syndrome type 1

status

active

date introduced

2021-01-31

fully specified name(s)

Rothmund Thomson syndrome type 1 (disorder)

synonyms

Rothmund Thomson syndrome type 1

attributes - group1

Finding site

Skin structure 39937001

Associated morphology

Poikiloderma 70114006

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

parents

Rothmund-Thomson syndrome 69093006
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Integumentary system finding 106077005
Disorder of integument 128598002
Hereditary disorder of the integument 363185004
Rothmund-Thomson syndrome 69093006
Rothmund Thomson syndrome type 1 1003922004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Rothmund Thomson syndrome type 1 1003922004

ancestors

sorted most to least specific

Rothmund-Thomson syndrome 69093006
Autosomal recessive hereditary disorder 85995004
Multiple malformation syndrome with senile-like appearance 12674005
Autosomal hereditary disorder 1899006
Genodermatosis 239001006
Developmental hereditary disorder 363070008
Hereditary disorder of the integument 363185004
Poikiloderma 402685001
Hereditary cancer-predisposing syndrome 699346009
Multiple system malformation syndrome 82354003
Congenital anomaly of skin 199879009
Atrophic condition of skin 400190005
Hereditary disorder by system 363137000
Congenital malformation syndrome 400038003
Hereditary disease 32895009
Congenital anomaly of integument 38164009
Degenerative skin disorder 396325007
Congenital malformation 276654001
Genetic disease 782964007
Degenerative disorder 362975008
Disorder of skin 95320005
Developmental disorder 5294002
Congenital disease 66091009
Skin finding 106076001
Disorder of skin and/or subcutaneous tissue 80659006
Disorder of integument 128598002
Skin AND/OR mucosa finding 415531008
Disorder of soft tissue 19660004
Integumentary system finding 106077005
Disorder of body system 362965005
General finding of soft tissue 248402002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Integumentary system finding 106077005

Disorder of integument 128598002

Hereditary disorder of the integument 363185004

Rothmund-Thomson syndrome 69093006

Rothmund Thomson syndrome type 1 1003922004

SNOMED CT code