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281300000: Below reference range (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
419283014 Below reference range en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
674819018 Below reference range (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3824221000005119 under referenceinterval da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Below reference range Is a Reference range comments false Inferred relationship Some
Below reference range Is a Outside reference range (qualifier value) true Inferred relationship Some
Below reference range Is a Decreased true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
erhvervet pure red cell-aplasi Has interpretation False Below reference range Inferred relationship Some 5
erhvervet pure red cell-aplasi Has interpretation False Below reference range Inferred relationship Some 1
erhvervet pure red cell-aplasi Has interpretation False Below reference range Inferred relationship Some 3
Hemolytic uremic syndrome, adult type Has interpretation True Below reference range Inferred relationship Some 4
Mycoplasmal anemia (disorder) Has interpretation False Below reference range Inferred relationship Some 1
Mycoplasmal anemia (disorder) Has interpretation False Below reference range Inferred relationship Some 2
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Has interpretation True Below reference range Inferred relationship Some 2
Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. Has interpretation True Below reference range Inferred relationship Some 1
Konstitutionel erytrocythypoplasi Has interpretation False Below reference range Inferred relationship Some 2
Transient acquired pure red cell aplasia Has interpretation True Below reference range Inferred relationship Some 2
Transient acquired pure red cell aplasia Has interpretation False Below reference range Inferred relationship Some 5
Transient acquired pure red cell aplasia Has interpretation True Below reference range Inferred relationship Some 3
Transient acquired pure red cell aplasia Has interpretation False Below reference range Inferred relationship Some 4
Cellular immunologic aplastic anemia Has interpretation True Below reference range Inferred relationship Some 3
Cellular immunologic aplastic anemia Has interpretation True Below reference range Inferred relationship Some 4
Cellular immunologic aplastic anemia Has interpretation True Below reference range Inferred relationship Some 5
Cellular immunologic aplastic anemia Has interpretation True Below reference range Inferred relationship Some 2
Anaemia caused by zidovudine Has interpretation True Below reference range Inferred relationship Some 2
Anaemia caused by zidovudine Has interpretation True Below reference range Inferred relationship Some 1
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. Has interpretation True Below reference range Inferred relationship Some 2
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. Has interpretation True Below reference range Inferred relationship Some 3
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. Has interpretation True Below reference range Inferred relationship Some 1
Aplastic anemia associated with metabolic alteration (disorder) Has interpretation True Below reference range Inferred relationship Some 4
Aplastic anemia associated with metabolic alteration (disorder) Has interpretation True Below reference range Inferred relationship Some 2
Aplastic anemia associated with metabolic alteration (disorder) Has interpretation True Below reference range Inferred relationship Some 5
Aplastic anemia associated with metabolic alteration (disorder) Has interpretation True Below reference range Inferred relationship Some 3
Congenital dyserythropoietic anemia, type II Has interpretation True Below reference range Inferred relationship Some 2
Congenital dyserythropoietic anemia, type II Has interpretation True Below reference range Inferred relationship Some 1
Immunologic aplastic anemia Has interpretation True Below reference range Inferred relationship Some 4
Immunologic aplastic anemia Has interpretation True Below reference range Inferred relationship Some 2
Immunologic aplastic anemia Has interpretation True Below reference range Inferred relationship Some 5
Immunologic aplastic anemia Has interpretation True Below reference range Inferred relationship Some 3
Anemia due to infection Has interpretation False Below reference range Inferred relationship Some 1
Anemia due to infection Has interpretation False Below reference range Inferred relationship Some 2
Hemolytic uremic syndrome Has interpretation True Below reference range Inferred relationship Some 1
Secondary aplastic anemia Has interpretation True Below reference range Inferred relationship Some 3
Secondary aplastic anemia Has interpretation True Below reference range Inferred relationship Some 2
Secondary aplastic anemia Has interpretation True Below reference range Inferred relationship Some 4
Secondary aplastic anemia Has interpretation True Below reference range Inferred relationship Some 5
Acute pure red cell aplasia (disorder) Has interpretation True Below reference range Inferred relationship Some 1
Parvoviral aplastic crisis (disorder) Has interpretation True Below reference range Inferred relationship Some 1
Aplastic anemia due to infection Has interpretation True Below reference range Inferred relationship Some 4
Pancytopenia caused by medication (disorder) Has interpretation True Below reference range Inferred relationship Some 4
Congenital hypoplastic anemia Has interpretation True Below reference range Inferred relationship Some 2
Constitutional aplastic anemia with malformation Has interpretation True Below reference range Inferred relationship Some 1
Haemolytic uraemic syndrome with either a family history of haemolytic uraemic syndrome or a genetic mutation known to cause haemolytic uraemic syndrome, or both. Has interpretation True Below reference range Inferred relationship Some 3
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. Has interpretation True Below reference range Inferred relationship Some 4
Fanconi's anemia Has interpretation True Below reference range Inferred relationship Some 1
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. Has interpretation True Below reference range Inferred relationship Some 1
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. Has interpretation True Below reference range Inferred relationship Some 2
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. Has interpretation True Below reference range Inferred relationship Some 4
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. Has interpretation True Below reference range Inferred relationship Some 3
Anemia due to and following chemotherapy Has interpretation False Below reference range Inferred relationship Some 2
Anemia due to and following chemotherapy Has interpretation False Below reference range Inferred relationship Some 1
Neutropaenia due to and following chemotherapy Has interpretation True Below reference range Inferred relationship Some 1
Kasabach-Merritt syndrome Has interpretation True Below reference range Inferred relationship Some 1
A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections. Has interpretation True Below reference range Inferred relationship Some 1
A rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. Has interpretation True Below reference range Inferred relationship Some 1
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. Has interpretation True Below reference range Inferred relationship Some 1
A disorder of the skin and immune system with initial manifestation of a bumpy skin rash usually between the ages of 6 and 12 months, gradually spreading from the arms and legs to the torso and face. At about age 2, the rash fades leaving hyperpigmentation and hypopigmentation and telangiectases, this combination is known as poikiloderma. Palmoplantar keratoderma, calcinosis cutis, skin ulcers, pachyonychia, fragile teeth and low bone density may also be present. Chronic neutropenia is present resulting in recurrent sinus infections and pneumonia, especially in the first few years of life. Caused by mutations in the USB1 gene. Has interpretation True Below reference range Inferred relationship Some 1
A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. Has interpretation True Below reference range Inferred relationship Some 1
A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. Has interpretation True Below reference range Inferred relationship Some 2
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. Has interpretation True Below reference range Inferred relationship Some 4
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. Has interpretation True Below reference range Inferred relationship Some 5
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. Has interpretation True Below reference range Inferred relationship Some 3
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. Has interpretation True Below reference range Inferred relationship Some 2
A very rare secondary neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated. Has interpretation True Below reference range Inferred relationship Some 2
A very rare secondary neonatal autoimmune disease characterized by onset of hemolytic anemia in the neonatal period associated with a positive direct antiglobulin test. Hepatosplenomegaly may be associated. Has interpretation True Below reference range Inferred relationship Some 3
A rare genetic haematologic and neurologic disease characterised by chronic Coombs-negative haemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). Has interpretation True Below reference range Inferred relationship Some 2
A rare genetic haematologic and neurologic disease characterised by chronic Coombs-negative haemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). Has interpretation True Below reference range Inferred relationship Some 1
A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q. Has interpretation True Below reference range Inferred relationship Some 1
Stiffness of joint of right hip (finding) Has interpretation True Below reference range Inferred relationship Some 1
Stiffness of joint of left foot Has interpretation True Below reference range Inferred relationship Some 1
Stiffness of joint of left elbow Has interpretation True Below reference range Inferred relationship Some 1
Stiffness of joint of left hip (finding) Has interpretation True Below reference range Inferred relationship Some 1
Stiffness of joint of right elbow (finding) Has interpretation True Below reference range Inferred relationship Some 1
Stiffness of joint of right foot (finding) Has interpretation True Below reference range Inferred relationship Some 1
Stiffness of joints of bilateral elbows (finding) Has interpretation True Below reference range Inferred relationship Some 1
Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis. Has interpretation True Below reference range Inferred relationship Some 3
Steroid sensitive nephrotic syndrome of childhood (disorder) Has interpretation True Below reference range Inferred relationship Some 2
Nephrotic syndrome Has interpretation True Below reference range Inferred relationship Some 2
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Has interpretation True Below reference range Inferred relationship Some 4
Nephrotic syndrome with minimal change glomerulonephritis Has interpretation True Below reference range Inferred relationship Some 2
Nephrotic syndrome co-occurrent and due to membranoproliferative glomerulonephritis type III (disorder) Has interpretation True Below reference range Inferred relationship Some 2
Nephrotic-nephritic syndrome Has interpretation True Below reference range Inferred relationship Some 2
Steroid resistant nephrotic syndrome of childhood Has interpretation True Below reference range Inferred relationship Some 2
Congenital nephrotic syndrome Has interpretation True Below reference range Inferred relationship Some 3
Familiær mesangial sklerose Has interpretation True Below reference range Inferred relationship Some 3
Nephrotic syndrome, dense deposit disease Has interpretation True Below reference range Inferred relationship Some 2
Childhood nephrotic syndrome (disorder) Has interpretation True Below reference range Inferred relationship Some 2
Nephrotic syndrome, focal and segmental glomerular lesions Has interpretation True Below reference range Inferred relationship Some 2
LAMB2-related infantile-onset nephrotic syndrome Has interpretation True Below reference range Inferred relationship Some 3
Nephrotic syndrome secondary to glomerulonephritis Has interpretation True Below reference range Inferred relationship Some 2
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. Has interpretation True Below reference range Inferred relationship Some 4
Nephrotic syndrome secondary to systemic disease Has interpretation True Below reference range Inferred relationship Some 2
A rare genetic renal disease characterized by hereditary nephritis leading to nephrotic syndrome and end-stage renal failure associated with sensorineural hearing loss and pretibial skin blistering followed by atrophy. Other reported manifestations include bilateral lacrimal duct stenosis, dystrophic teeth and nails, bilateral cervical ribs, unilateral kidney, distal vaginal agenesis and anemia due to beta-thalassemia minor. There is evidence this syndrome is caused by mutation in the CD151 gene. Has interpretation True Below reference range Inferred relationship Some 3
Nephrotic syndrome co-occurrent with human immunodeficiency virus infection (disorder) Has interpretation True Below reference range Inferred relationship Some 3
Nephrotic syndrome due to type 1 diabetes mellitus Has interpretation True Below reference range Inferred relationship Some 2
Multi-drug resistant nephrotic syndrome (disorder) Has interpretation True Below reference range Inferred relationship Some 2
Nephrotic syndrome co-occurrent and due to systemic lupus erythematosus (disorder) Has interpretation True Below reference range Inferred relationship Some 2
Nephrotic syndrome, diffuse mesangial proliferative glomerulonephritis Has interpretation True Below reference range Inferred relationship Some 2

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