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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
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


0 descendants.

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

This concept is not in any reference sets

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