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719019000: WT limb blood syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3314688017 WT limb blood syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314689013 WT limb blood syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401927018 A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401928011 A rare constitutional aplastic anaemia disorder characterised by severe hypo/aplastic anaemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukaemia. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314688017 WT limb blood syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314689013 WT limb blood syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314690016 Syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314691017 Syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401927018 A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401928011 A rare constitutional aplastic anaemia disorder characterised by severe hypo/aplastic anaemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukaemia. There have been no further descriptions in the literature since 1995. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1058381000195115 WT-Gliedmassen-Blut-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870801000172112 syndrome WT membres-sang fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
870801000172112 syndrome WT membres-sang fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1058381000195115 WT-Gliedmassen-Blut-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450961001000117 WT-Gliedmaßen-Blut-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
WT limb blood syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a Aplastic anaemia false Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a Hereditary disorder of cellular element of blood false Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Has definitional manifestation Cytopenia false Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
WT limb blood syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
WT limb blood syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
WT limb blood syndrome (disorder) Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
WT limb blood syndrome (disorder) Finding site Bone marrow structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
WT limb blood syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
WT limb blood syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 5
WT limb blood syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
WT limb blood syndrome (disorder) Interprets Red blood cell count true Inferred relationship Existential restriction modifier (core metadata concept) 5
WT limb blood syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
WT limb blood syndrome (disorder) Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 3
WT limb blood syndrome (disorder) Due to Decreased erythrocyte production true Inferred relationship Existential restriction modifier (core metadata concept) 6
WT limb blood syndrome (disorder) Interprets Measurement of total haemoglobin concentration true Inferred relationship Existential restriction modifier (core metadata concept) 1
WT limb blood syndrome (disorder) Is a Inherited platelet disorder true Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a Hereditary white blood cell disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a Constitutional aplastic anaemia true Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Interprets White blood cell count (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
WT limb blood syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
WT limb blood syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
WT limb blood syndrome (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 7
WT limb blood syndrome (disorder) Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 7
WT limb blood syndrome (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 7
WT limb blood syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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