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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
419283014 Below reference range en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
149241000077115 au-dessous de l'étendue de référence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
149241000077115 au-dessous de l'étendue de référence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Below reference range Is a Outside reference range true Inferred relationship Existential restriction modifier (core metadata concept)
Below reference range Is a Decreased true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
PYCR2-related microcephaly, progressive leucoencephalopathy Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
NDE1-related microhydranencephaly Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Cerebellar-facial-dental syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature, developmental delay, congenital heart defect syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Coffin-Lowry syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Ubiquitin specific peptidase 18 deficiency (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 8
Classical-like Ehlers-Danlos syndrome type 2 Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Upshaw-Schulman syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Hypoxic nephrosis (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypocomplementaemic urticarial vasculitis Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
von Willebrand factor below reference range Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypoglobulinaemia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Decreased renal clearance Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Menke Hennekam syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Menke Hennekam syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Wasting syndrome due to acquired immunodeficiency syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Idiopathic steroid-resistant nephrotic syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, idiopathic nephrotic syndrome characterised by paediatric onset of proteinuria, hypoalbuminaemia and oedema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Hematopoietic subsyndrome of acute radiation syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Hematopoietic subsyndrome of acute radiation syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Hematopoietic subsyndrome of acute radiation syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
Hematopoietic subsyndrome of acute radiation syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 7
Rhizomelic dysplasia (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
Langer mesomelic dysplasia syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Nievergelt's syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Leri-Weill dyschondrosteosis Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic syndrome Urbach type Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia Kantaputra type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleidorhizomelic syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Dyschondrosteose - Nephritis Has interpretation False Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Reinhardt Pfeiffer mesomelic dysplasia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracic dysplasia and hydrocephalus syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive Robinow syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant Robinow syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
Leri-Weill dyschondrosteosis Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 8
Mesomelic dysplasia of upper limb (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia of upper limb (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Mesomelic dysplasia of lower limb Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Mesomelic dysplasia of lower limb Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 9
Short stature homeobox related short stature (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Kantaputra type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Mesomelic dysplasia Savarirayan type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Mesomelic dysplasia Savarirayan type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 6
Reinhardt Pfeiffer mesomelic dysplasia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Diastrophic dysplasia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive Robinow syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 8
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Brachydactyly type A6 (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked spondyloepimetaphyseal dysplasia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked spondyloepimetaphyseal dysplasia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Axial spondylometaphyseal dysplasia (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia Lowry type Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant omodysplasia (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive omodysplasia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Bone dysplasia lethal Holmgren type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic dysplasia of Patterson Lowry type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic dysplasia of Patterson Lowry type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Smith McCort dysplasia (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Regressive spondylometaphyseal dysplasia (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 7
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Smith McCort dysplasia (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleidorhizomelic syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia Lowry type Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant osteopetrosis type 1 (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal arthrogryposis type 3 (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 4
A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterised clinically by corneal opacities, haemolytic anaemia and renal failure and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. Age of onset and severity of clinical manifestations are variable. Caused by mutations in the LCAT gene (16q22.1) encoding the LCAT enzyme which catalyses the formation of cholesterol esters in lipoproteins, leading to progressive lipid deposition in body tissues. There is no clear genotype-phenotype correlation since family members with the same mutation have been found to have different clinical and biochemical pictures. Environmental factors or other minor genes may therefore also be involved in the disorder. Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Lecithin cholesterol acyltransferase deficiency Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Fish-eye disease Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Hyponatremia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Hyponatremia with excess extracellular fluid volume (finding) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Water intoxication syndrome Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyponatremia with normal extracellular fluid volume Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebral hyponatraemia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Chronic hyponatraemia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyponatremia with decreased serum osmolality Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Transurethral resection of prostate syndrome (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Dilutional hyponatremia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Acute hyponatremia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1
Transitory neonatal hyponatraemia Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 3
Paraneoplastic hyponatremia (disorder) Has interpretation True Below reference range Inferred relationship Existential restriction modifier (core metadata concept) 1

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