Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Ocular hypertension due to intraocular neoplasm of left eye (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ocular hypertension due to intraocular neoplasm of right eye (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral ocular hypertension due to intraocular neoplasm |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Bilateral ocular hypertension due to intraocular neoplasm |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Postpartum gestational proteinuria (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Melorheostosis of right shoulder region |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Melorheostosis of left shoulder region (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Melorheostosis of shoulder region (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypercalciuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial hypomagnesaemia-hypercalciuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bartter syndrome antenatal type 1 (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bartter syndrome antenatal type 2 (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bartter syndrome type 3 (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bartter syndrome type 4 (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bartter syndrome type 4a (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Bartter syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Familial idiopathic hypercalciuria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hyperuricemia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lesch-Nyhan syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperuricaemia without signs of inflammatory arthritis and tophaceous disease |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperuricemia, anemia, renal failure syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hyperimmunoglobulin E syndrome |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant combined immunodeficiency due to ERBIN deficiency |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive combined immunodeficiency due to IL6R deficiency |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Netherton syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
PGM3-related congenital disorder of glycosylation |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Familial juvenile hyperuricemic nephropathy (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Oxygen saturation above reference range (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oxygen saturation in arterial blood above reference range |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Miscarriage with uremia (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Episodic increase of eosinophil count (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypereosinophilia level indicating malignancy (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypereosinophilia (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased 4-hydroxyphenylacetic acid level in urine (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased 4-hydroxyphenylpyruvic acid level in urine (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Muscle eosinophilia |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Increased amino acid level in urine due to decreased renal function |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased lactic acid level in urine |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased eosinophil count of ascitic fluid |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Increased eosinophil count of gastrointestinal tract (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Increased 3-hydroxydicarboxylic acid level in urine |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased argininosuccinate lyase level in urine (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased alpha-aminoadipic acid level in urine (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased neutral amino acid level in urine |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased 2-Aminobutyric acid level in urine (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased aspartic acid level in urine |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Increased complex organic acid level in urine |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Aminoaciduria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Imidazole aminoaciduria |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dicarboxylic aminoaciduria syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Camptodactyly taurinuria syndrome (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Deficiency of aminoacylase 1 (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Inherited aminoaciduria (disorder) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Recurrent fever (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sclerosis of epiphysis of first metatarsal bone with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of third toe with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of middle finger with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of second toe with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of index finger with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of little finger with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of fifth toe with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of ring finger with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of fourth toe with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of finger with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of hand with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of second toe with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of toe with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of third toe with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of great toe with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of middle finger with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of index finger with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of little finger with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of phalanx of ring finger increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of fifth toe with increased radiopacity |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sclerosis of epiphysis of middle phalanx of fourth toe with increased radiopacity (finding) |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Transient increase in amino acid level in urine |
Has interpretation |
True |
Above reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |