723512008: Revesz syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Revesz syndrome
\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Revesz syndrome

\Anaemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Anaemia\Congenital anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Anaemia\Anaemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome

\White blood cell disorder\Hereditary white blood cell disorder\Revesz syndrome
\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome

\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Revesz syndrome
\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Platelet disorder\Inherited platelet disorder\Revesz syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Revesz syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Revesz syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Revesz syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Revesz syndrome

\Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Revesz syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Revesz syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Revesz syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Revesz syndrome

\Functional finding\Disorder of haemostatic system\Platelet disorder\...

\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Revesz syndrome
\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome

\Inherited platelet disorder\Revesz syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Revesz syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Revesz syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Revesz syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Revesz syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Revesz syndrome
\Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Revesz syndrome
\Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Disorder of immune function\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Revesz syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Revesz syndrome
\Disease\Blood disease\Anaemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Blood disease\Anaemia\Congenital anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Revesz syndrome
\Disease\Blood disease\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Revesz syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Revesz syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Revesz syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Revesz syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Revesz syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Revesz syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Revesz syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Revesz syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Revesz syndrome
\Disease\Congenital disease\Congenital thrombocytopenia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Congenital disease\Congenital anaemia\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Revesz syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita\Revesz syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424891015 Revesz syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3424892010 Revesz syndrome en Synonym Active Case sensitive SNOMED CT core

3424893017 Dyskeratosis congenita with bilateral exudative retinopathy en Synonym Active Case insensitive SNOMED CT core

3424894011 Retinopathy, anemia, central nervous system anomalies syndrome en Synonym Active Case insensitive SNOMED CT core

3424895012 Retinopathy, anaemia, central nervous system anomalies syndrome en Synonym Active Case insensitive SNOMED CT core

3424896013 Revesz DeBuse syndrome en Synonym Active Case sensitive SNOMED CT core

3424897016 A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Revesz syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Revesz syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	7
Revesz syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	6
Revesz syndrome	Pathological process	Abnormal immune process	false	Inferred relationship	Some	9
Revesz syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	8
Revesz syndrome	Interprets	Haemostatic function	false	Inferred relationship	Some	8
Revesz syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	11
Revesz syndrome	Occurrence	Congenital	true	Inferred relationship	Some	11
Revesz syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	11
Revesz syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	11
Revesz syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	9
Revesz syndrome	Interprets	Haemostatic function	true	Inferred relationship	Some	9
Revesz syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	8
Revesz syndrome	Is a	Constitutional aplastic anaemia	true	Inferred relationship	Some
Revesz syndrome	Is a	Retinal disorder	true	Inferred relationship	Some
Revesz syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Revesz syndrome	Is a	Hereditary disorder of cellular element of blood	false	Inferred relationship	Some
Revesz syndrome	Is a	Autosomal dominant dyskeratosis congenita	true	Inferred relationship	Some
Revesz syndrome	Has definitional manifestation	Cytopenia	false	Inferred relationship	Some
Revesz syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Revesz syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	5
Revesz syndrome	Associated morphology	Aplasia	false	Inferred relationship	Some	6
Revesz syndrome	Finding site	Bone marrow structure	false	Inferred relationship	Some	6
Revesz syndrome	Associated morphology	Dyskeratosis	true	Inferred relationship	Some	7
Revesz syndrome	Occurrence	Congenital	true	Inferred relationship	Some	7
Revesz syndrome	Finding site	Skin structure	true	Inferred relationship	Some	7
Revesz syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Revesz syndrome	Finding site	Skin structure	false	Inferred relationship	Some	8
Revesz syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	7
Revesz syndrome	Associated morphology	Dyskeratosis	false	Inferred relationship	Some	8
Revesz syndrome	Occurrence	Congenital	true	Inferred relationship	Some	6
Revesz syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	6
Revesz syndrome	Associated morphology	Aplasia	true	Inferred relationship	Some	5
Revesz syndrome	Finding site	Bone marrow structure	true	Inferred relationship	Some	5
Revesz syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Revesz syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Revesz syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Revesz syndrome	Is a	Hereditary white blood cell disorder	true	Inferred relationship	Some
Revesz syndrome	Is a	Inherited platelet disorder	true	Inferred relationship	Some
Revesz syndrome	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	10
Revesz syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Revesz syndrome	Interprets	White blood cell count	true	Inferred relationship	Some	2
Revesz syndrome	Interprets	Platelet count	true	Inferred relationship	Some	3
Revesz syndrome	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Revesz syndrome	Interprets	Red blood cell count	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424891015	Revesz syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3424892010	Revesz syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424893017	Dyskeratosis congenita with bilateral exudative retinopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3424894011	Retinopathy, anemia, central nervous system anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424895012	Retinopathy, anaemia, central nervous system anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424896013	Revesz DeBuse syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424897016	A rare severe phenotypic variant of dyskeratosis congenita with onset in early childhood. The syndrome has features of dyskeratosis congenita (for example skin hyper/hypopigmentation, nail dystrophy, high risk of bone marrow failure and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy and intracranial calcifications.	en	Definition	Active	Case sensitive	SNOMED CT core