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
Paraneoplastic hyponatremia (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Drug-induced hyponatraemia	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Hyponatremia with extracellular fluid depletion	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age.	Has interpretation	True	Below reference range	Inferred relationship	Some	9
A rare type of hemolytic uremic syndrome (HUS) characterized by the triad of hemolytic anemia due to generalized thrombotic microangiopathy, thrombocytopenia, and acute kidney injury, and most commonly occurring after acute gastroenteritis due to Shiga toxin-producing enterohemorrhagic Escherichia coli or Shigella dysenteriae. Other infectious causes of HUS include Streptococcus pneumoniae, HIV, Mycoplasma pneumoniae, Histoplasmosis, and Coxsackie virus.	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare type of hemolytic uremic syndrome (HUS) characterized by the triad of hemolytic anemia due to generalized thrombotic microangiopathy, thrombocytopenia, and acute kidney injury, and most commonly occurring after acute gastroenteritis due to Shiga toxin-producing enterohemorrhagic Escherichia coli or Shigella dysenteriae. Other infectious causes of HUS include Streptococcus pneumoniae, HIV, Mycoplasma pneumoniae, Histoplasmosis, and Coxsackie virus.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
A rare type of hemolytic uremic syndrome (HUS) characterized by the triad of hemolytic anemia due to generalized thrombotic microangiopathy, thrombocytopenia, and acute kidney injury, and most commonly occurring after acute gastroenteritis due to Shiga toxin-producing enterohemorrhagic Escherichia coli or Shigella dysenteriae. Other infectious causes of HUS include Streptococcus pneumoniae, HIV, Mycoplasma pneumoniae, Histoplasmosis, and Coxsackie virus.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Glutathione synthase deficiency without 5-oxoprolinuria	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Glutathione synthase deficiency without 5-oxoprolinuria	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Hyponatremia with decreased serum osmolality	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
densité diminuée	Has interpretation	False	Below reference range	Inferred relationship	Some	1
Urine pH below reference range	Has interpretation	True	Below reference range	Inferred relationship	Some	1
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	Has interpretation	True	Below reference range	Inferred relationship	Some	9
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	Has interpretation	True	Below reference range	Inferred relationship	Some	10
Postpartum hemolysis-elevated liver enzymes-low platelet count syndrome	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Pelvic disproportion due to contracted pelvis	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Fanconi anemia of complementation group C	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Fanconi anemia of complementation group C	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Fanconi anemia of complementation group C	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Fanconi anemia of complementation group C	Has interpretation	True	Below reference range	Inferred relationship	Some	5
International normalized ratio below reference range (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Haemoglobin D beta plus thalassaemia	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Haemoglobin E beta plus thalassaemia	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Haemoglobin C beta plus thalassaemia	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Hemoglobin E beta zero thalassemia	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Hemoglobin D beta zero thalassemia (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Haemoglobin C beta zero thalassaemia	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Pancytopenia caused by colchicine (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Pancytopenia caused by colchicine (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Pancytopenia caused by colchicine (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Pancytopenia caused by colchicine (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Delta beta thalassemia trait (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Postpartum iron deficiency anemia (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Postpartum iron deficiency anemia (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Iron deficiency anemia during maternal intrapartum period (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Iron deficiency anemia during maternal intrapartum period (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Glutathione synthase deficiency with 5-oxoprolinuria	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Glutathione synthase deficiency with 5-oxoprolinuria	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Atypical haemolytic uraemic syndrome with complement gene abnormality	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Atypical haemolytic uraemic syndrome with complement gene abnormality	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Atypical haemolytic uraemic syndrome with complement gene abnormality	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Atypical haemolytic uraemic syndrome with anti-factor H antibodies	Has interpretation	True	Below reference range	Inferred relationship	Some	4
Atypical haemolytic uraemic syndrome with anti-factor H antibodies	Has interpretation	True	Below reference range	Inferred relationship	Some	5
Atypical haemolytic uraemic syndrome with anti-factor H antibodies	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Left ventricular pressure during mid-diastole below reference range	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Nocturnal hypoglycaemia	Has interpretation	True	Below reference range	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. Brain imaging shows structural abnormalities in all patients.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.	Has interpretation	True	Below reference range	Inferred relationship	Some	8
A form of pontocerebellar hypoplasia characterised by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anaemia and thrombocytopenia have also been reported.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.	Has interpretation	True	Below reference range	Inferred relationship	Some	9
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia.	Has interpretation	True	Below reference range	Inferred relationship	Some	7
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia.	Has interpretation	True	Below reference range	Inferred relationship	Some	8
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia.	Has interpretation	True	Below reference range	Inferred relationship	Some	9
A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia.	Has interpretation	True	Below reference range	Inferred relationship	Some	13
A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
Pancytopenia caused by antidiabetic drug (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Pancytopenia caused by antidiabetic drug (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Pancytopenia caused by antidiabetic drug (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Pancytopenia caused by antidiabetic drug (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	4
TTS (thrombosis with thrombocytopenia syndrome) following non-replicating adenovirus vector COVID-19 vaccination	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.	Has interpretation	True	Below reference range	Inferred relationship	Some	6
A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects.	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Dual energy X-ray absorptiometry of neck of femur result osteopenia (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	1
Dual energy X-ray absorptiometry of bone of hip joint region result osteopenia (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Dual energy X-ray absorptiometry of calcaneum result osteoporosis (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Dual energy X-ray absorptiometry of calcaneum result osteopenia (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Dual energy X-ray absorptiometry of bone of forearm result osteopenia (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Dual energy X-ray absorptiometry of bone of forearm result osteoporosis (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Dual energy X-ray absorptiometry of neck of femur result osteoporosis (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Dual energy X-ray absorptiometry of bone of hip joint region result osteoporosis (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Dual energy X-ray absorptiometry of bone of lumbar vertebra result osteoporosis (finding)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare renal tubular disease characterised by hypomagnesaemia due to renal magnesium wasting, recurrent generalised seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
Thrombosis with thrombocytopenia syndrome following vaccination (disorder)	Has interpretation	True	Below reference range	Inferred relationship	Some	2
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation	Has interpretation	True	Below reference range	Inferred relationship	Some	2
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.	Has interpretation	True	Below reference range	Inferred relationship	Some	3
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.	Has interpretation	True	Below reference range	Inferred relationship	Some	4
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.	Has interpretation	True	Below reference range	Inferred relationship	Some	5
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.	Has interpretation	True	Below reference range	Inferred relationship	Some	6

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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