723512008: Revesz syndrome (disorder)

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

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

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

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

\Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Anemia\Congenital anemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)

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

\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Platelet disorder\Inherited platelet disorder\Revesz syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (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\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)

\Procedure related finding\Evaluation finding\...

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

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

\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)

\Inherited platelet disorder\Revesz syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Revesz syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Revesz syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Revesz syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Revesz syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Revesz syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (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\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Revesz syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Revesz syndrome (disorder)
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Revesz syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Revesz syndrome (disorder)
\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 (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (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\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (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\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Revesz syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Revesz syndrome (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Revesz syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)\Revesz syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3424892010 Revesz syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424893017 Dyskeratosis congenita with bilateral exudative retinopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424894011 Retinopathy, anemia, central nervous system anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424895012 Retinopathy, anaemia, central nervous system anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424896013 Revesz DeBuse syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403097018 Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403098011 Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterised by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leucoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424891015	Revesz syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424892010	Revesz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424893017	Dyskeratosis congenita with bilateral exudative retinopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424894011	Retinopathy, anemia, central nervous system anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424895012	Retinopathy, anaemia, central nervous system anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424896013	Revesz DeBuse syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403097018	Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403098011	Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterised by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leucoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core