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723512008: 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
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
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 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
602591000274113 Dyskeratosis congenita mit bilateraler exsudativer Retinopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443861001000117 Revesz-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938611000172116 dyskératose congénitale avec rétinopathie exsudative bilatérale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
974211000172112 syndrome de Revesz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938611000172116 dyskératose congénitale avec rétinopathie exsudative bilatérale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
974211000172112 syndrome de Revesz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602591000274113 Dyskeratosis congenita mit bilateraler exsudativer Retinopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3443861001000117 Revesz-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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