281300000: Below reference range (qualifier value)

SNOMED CT Concept\Qualifier value (qualifier value)\Finding value (qualifier value)\...

\Interpretation value\Reference range interpretation value\Outside reference range (qualifier value)\Below reference range

\Finding status values\Change values\Changed status\Decreased\Below reference range

\Degree findings\Decreased\Below reference range

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

Descriptions:

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
Hemolytic disease of fetus due to ABO immunization	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Hemolytic disease of fetus due to ABO immunization	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Fetal thrombocytopenia	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Anemia due to chronic kidney disease stage 1	Has interpretation	False	Below reference range	Inferred relationship	Some	1
Anemia due to chronic kidney disease stage 1	Has interpretation	False	Below reference range	Inferred relationship	Some	2
Thrombocytopenic purpura	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Thrombocytopenic purpura	Has interpretation	True	Below reference range	Inferred relationship	Some	7
Chronic idiopathic thrombocytopenic purpura (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Chronic idiopathic thrombocytopenic purpura (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	9
Posttransfusion purpura	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Posttransfusion purpura	Has interpretation	True	Below reference range	Inferred relationship	Some	7
purpura thrombopénique idiopathique	Has interpretation	False	Below reference range	Inferred relationship	Some	8
purpura thrombopénique idiopathique	Has interpretation	False	Below reference range	Inferred relationship	Some	9
Post infectious thrombocytopenic purpura	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Post infectious thrombocytopenic purpura	Has interpretation	True	Below reference range	Inferred relationship	Some	7
Thrombocytopenic purpura due to defective platelet production (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Thrombocytopenic purpura due to defective platelet production (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	7
Thrombocytopenic purpura due to platelet consumption (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Thrombocytopenic purpura due to platelet consumption (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	7
purpura thrombopénique congénital	Has interpretation	False	Below reference range	Inferred relationship	Some	7
purpura thrombopénique congénital	Has interpretation	False	Below reference range	Inferred relationship	Some	8
Thrombocytopenic purpura associated with metabolic disorder (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	7
Thrombocytopenic purpura associated with metabolic disorder (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	8
purpura thrombopénique aigu idiopathique	Has interpretation	False	Below reference range	Inferred relationship	Some	6
purpura thrombopénique aigu idiopathique	Has interpretation	False	Below reference range	Inferred relationship	Some	9
Upshaw-Schulman syndrome (disorder)	Has interpretation	False	Below reference range	Inferred relationship	Some	8
Drug induced thrombotic thrombocytopenic purpura (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	6
B cell lymphocyte aplasia caused by drug (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Onycho-tricho-dysplasia neutropenia syndrome	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Hypothermia caused by cold environment (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Thrombocytopenia due to hypothermia	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Neonatal vitamin B12 deficiency due to maternal vitamin B12 deficiency	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Iatrogenic hypoglycaemia	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Glomerular filtration rate below reference range	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Immersion hypothermia	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Haemolytic anaemia of pregnancy	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Haemolytic anaemia of pregnancy	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Deficiency of gamma globulin.	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Decreased concentration of the gamma fraction of serum globulin	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Hypogammaglobulinaemia due to multiple myeloma	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Hypogammaglobulinaemia due to monoclonal gammopathy of undetermined significance	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Macrocytic anaemia of pregnancy	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Macrocytic anaemia of pregnancy	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Nutritional anaemia of pregnancy	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Nutritional anaemia of pregnancy	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Base deficit	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Deficiency of N-acetylgalactosamine-6-sulfatase	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Fetal microcephaly (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly.	Has interpretation	True	Below reference range	Inferred relationship	Some	2
24 hour urine volume below reference range (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Vomit pH more acidic than reference range (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Leukopenia caused by drug	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Creatinine clearance below reference range (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation.	Has interpretation	True	Below reference range	Inferred relationship	Some	1
A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Amish lethal microcephaly (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Secondary microcephaly	Has interpretation	True	Below reference range	Inferred relationship	Some	1
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures.	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Congenital intrauterine infection-like syndrome is characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare, genetic, neurometabolic disorder characterised by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.	Has interpretation	True	Below reference range	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).	Has interpretation	True	Below reference range	Inferred relationship	Some	7
Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Hypocalcemia due to chronic kidney disease (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Hypophosphatemia due to chronic kidney disease (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Hydromicrocephaly	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.	Has interpretation	True	Below reference range	Inferred relationship	Some	8
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Autosomal dominant sideroblastic anemia (disorder)	Has interpretation	False	Below reference range	Inferred relationship	Some	3
Autosomal dominant sideroblastic anemia (disorder)	Has interpretation	False	Below reference range	Inferred relationship	Some	2
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Hemolytic anemia due to red cell enolase deficiency (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Hemolytic anemia due to red cell enolase deficiency (disorder)	Has interpretation	False	Below reference range	Inferred relationship	Some	2
Haemoglobin Paksé disease	Has interpretation	False	Below reference range	Inferred relationship	Some	3

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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
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
2343211000195112	Unterhalb Referenzbereich	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2343221000195119	Unter Referenzbereich	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module