1003922004: Rothmund Thomson syndrome type 1 (disorder)

• 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\Fetal and/or neonatal disorder of integument\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\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Rothmund-Thomson syndrome\Rothmund Thomson syndrome type 1 (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\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\Fetal and/or neonatal disorder\Congenital disease\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\Fetal and/or neonatal disorder of integument\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:

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
7695531000241115	SRT (syndrome de Rothmund-Thomson) de type 1	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7695541000241113	syndrome de Rothmund-Thomson de type 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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