1003922004: syndroom van Rothmund-Thomson type 1 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)

\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rothmund Thomson syndrome type 1 (disorder)	Is a	Rothmund-Thomson syndrome	true	Inferred relationship	Some
Rothmund Thomson syndrome type 1 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Rothmund Thomson syndrome type 1 (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Rothmund Thomson syndrome type 1 (disorder)	Associated morphology	Poikiloderma	true	Inferred relationship	Some	1
Rothmund Thomson syndrome type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Rothmund Thomson syndrome type 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4166976010	Rothmund Thomson syndrome type 1 (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4166977018	Rothmund Thomson syndrome type 1	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12128791000146112	syndroom van Rothmund-Thomson type 1 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12128801000146111	syndroom van Rothmund-Thomson type 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12248891000146117	Rothmund-Thomson-syndroom type 1	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)