Endocrinology and Metabolism conditions, page 4 of 5
20 conditions on this page, alphabetically from Mucopolysaccharidosis IV to Thyroid gland disease. Each entry below describes the condition in full.
On this page
Mucopolysaccharidosis IV
In clinical terms, mucopolysaccharidosis IV is described as follows: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Also known as
- deficiency of chondroitinsulphatase
- deficiency of N-acetylgalactosamine-6-sulphatase
- galactosamine-6-sulfatase deficiency
- Mucopolysaccharidosis, MPS-IV
Classification
Ontology identifier: DOID:12804 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › lysosomal storage disease › mucopolysaccharidosis.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E76.219
- MeSH: D009085
- SNOMED CT: 378007
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, mucopolysaccharidosis IV is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about mucopolysaccharidosis IV. Bring a list of current medications and any previous test results.
Reference links
Mucopolysaccharidosis type IIIA
In clinical terms, mucopolysaccharidosis type IIIA is described as follows: A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3.
Also known as
- heparan sulfamidase deficiency
- MPS3A
- MPSIIIA
- mucopolysaccharidosis III-A
- mucopolysaccharidosis type 3A
- mucopolysaccharidosis type IIIA (Sanfilippo A)
- Sanfilippo syndrome type A
Classification
Ontology identifier: DOID:0111395 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E76.22
- MeSH: D009084
- OMIM: 252900
- SNOMED CT: 254070003
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, mucopolysaccharidosis type IIIA is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about mucopolysaccharidosis type IIIA. Bring a list of current medications and any previous test results.
Reference links
Mucopolysaccharidosis type IIIB
In clinical terms, mucopolysaccharidosis type IIIB is described as follows: A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.
Also known as
- MPS3B
- MPSIIIB
- Mucopoly-saccharidosis type 3B
- Mucopolysaccharidosis type 3B
- mucopolysaccharidosis type IIIB (Sanfilippo B)
- N-acetyl-alpha-glucosaminidase deficiency
- NAGLU deficiency
- Sanfilippo syndrome type B
Classification
Ontology identifier: DOID:0111394 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E76.22
- MeSH: D009084
- OMIM: 252920
- SNOMED CT: 254071004
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, mucopolysaccharidosis type IIIB is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about mucopolysaccharidosis type IIIB? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Nutrition disease
In clinical terms, nutrition disease is described as follows: an acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods.
Also known as
Classification
Ontology identifier: DOID:374 (Human Disease Ontology).
Classification path: disease of metabolism › acquired metabolic disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- MeSH: D009748
- SNOMED CT: 191077005
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for nutrition disease. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about nutrition disease. Bring a list of current medications and any previous test results.
Reference links
Obesity
In clinical terms, obesity is described as follows: an overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.
Classification
Ontology identifier: DOID:9970 (Human Disease Ontology).
Classification path: disease of metabolism › acquired metabolic disease › nutrition disease › overnutrition.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E66.9
- ICD-9-CM: 278.00
- MeSH: D009765
- OMIM: 601665
- SNOMED CT: 5476005
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, obesity is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about obesity. Bring a list of current medications and any previous test results.
Reference links
Ornithine carbamoyltransferase deficiency
An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. Patients with ornithine carbamoyltransferase deficiency are cared for through our Endocrinology and Metabolism service line.
Also known as
- deficiency of citrulline phosphorylase
- ornithine transcarbamylase deficiency
Classification
Ontology identifier: DOID:9271 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › amino acid metabolic disorder › urea cycle disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E72.4
- MeSH: D020163
- OMIM: 311250
- SNOMED CT: 80908008
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for ornithine carbamoyltransferase deficiency. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about ornithine carbamoyltransferase deficiency? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Pancreas disease
An endocrine system disease that is located_in the pancreas. This page summarizes how pancreas disease is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:26 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: K86.8
- ICD-9-CM: 577.8
- SNOMED CT: 197566002
Care at Weyland-Yutani Health System
Treatment of pancreas disease begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have pancreas disease, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Pancreatitis
A pancreas disease that is characterized by inflammation of the pancreas. Patients with pancreatitis are cared for through our Endocrinology and Metabolism service line.
Classification
Ontology identifier: DOID:4989 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › pancreas disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: K85.9
- MeSH: D010195
- OMIM: 167800
- SNOMED CT: 393591004
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, pancreatitis is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have pancreatitis, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Pentosuria
An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. Patients with pentosuria are cared for through our Endocrinology and Metabolism service line.
Also known as
- essential pentosuria
- L-xylulose reductase deficiency
- L-xylulosuria
- PNTSU
- xylitol dehydrogenase deficiency
Classification
Ontology identifier: DOID:0111258 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E74.89
- MeSH: C536652
- OMIM: 260800
- SNOMED CT: 190765004
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, pentosuria is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about pentosuria. Bring a list of current medications and any previous test results.
Reference links
Peroxisomal disease
An inherited metabolic disorder that involves peroxisome malfunction. Our Endocrinology and Metabolism team evaluates and manages peroxisomal disease.
Also known as
Classification
Ontology identifier: DOID:906 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E71.5
- ICD-9-CM: 277.86
- MeSH: D018901
- SNOMED CT: 238059005
Care at Weyland-Yutani Health System
Care for peroxisomal disease is coordinated through Endocrinology and Metabolism. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have peroxisomal disease, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Primary hyperaldosteronism
In clinical terms, primary hyperaldosteronism is described as follows: an adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
Also known as
- Cushing syndrome
- Cushing's syndrome
- hyperaldosteronism
Classification
Ontology identifier: DOID:446 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › adrenal gland disease › adrenal gland hyperfunction.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E24
- ICD-10-CM: E26
- ICD-9-CM: 255.0
- ICD-9-CM: 255.1
- MeSH: D003480
- MeSH: D006929
- SNOMED CT: 154705004
- SNOMED CT: 88213004
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for primary hyperaldosteronism. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about primary hyperaldosteronism? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Primary pigmented nodular adrenocortical disease
In clinical terms, primary pigmented nodular adrenocortical disease is described as follows: an adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
Also known as
Classification
Ontology identifier: DOID:0060280 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › adrenal gland disease › adrenal cortex disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- OMIM: PS610489
- SNOMED CT: 1348307004
- SNOMED CT: 719274008
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, primary pigmented nodular adrenocortical disease is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about primary pigmented nodular adrenocortical disease? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Protein-energy malnutrition
A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. This page summarizes how protein-energy malnutrition is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:11801 (Human Disease Ontology).
Classification path: disease of metabolism › acquired metabolic disease › nutrition disease › nutritional deficiency disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E46
- ICD-9-CM: 263.9
- MeSH: D011502
- SNOMED CT: 72608005
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, protein-energy malnutrition is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about protein-energy malnutrition? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Purine-pyrimidine metabolic disorder
In clinical terms, purine-pyrimidine metabolic disorder is described as follows: an inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism.
Also known as
- inborn errors of purine-pyrimidine metabolism
Classification
Ontology identifier: DOID:653 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E79.8
- ICD-9-CM: 277.2
- SNOMED CT: 190917005
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for purine-pyrimidine metabolic disorder. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about purine-pyrimidine metabolic disorder. Bring a list of current medications and any previous test results.
Reference links
Pyruvate carboxylase deficiency disease
A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. Patients with pyruvate carboxylase deficiency disease are cared for through our Endocrinology and Metabolism service line.
Also known as
- deficiency of pyruvic carboxylase
Classification
Ontology identifier: DOID:3651 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › carbohydrate metabolic disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E74.4
- MeSH: D015324
- OMIM: 266150
- SNOMED CT: 87694001
Care at Weyland-Yutani Health System
Care for pyruvate carboxylase deficiency disease is coordinated through Endocrinology and Metabolism. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have pyruvate carboxylase deficiency disease, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Sea-blue histiocytosis
A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. Our Endocrinology and Metabolism team evaluates and manages sea-blue histiocytosis.
Also known as
- Sea-blue histiocyte syndrome
Classification
Ontology identifier: DOID:4423 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › lysosomal storage disease › lipid storage disease › sphingolipidosis.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- MeSH: D012618
- OMIM: 269600
- SNOMED CT: 37821003
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, sea-blue histiocytosis is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about sea-blue histiocytosis. Bring a list of current medications and any previous test results.
Reference links
Sphingolipidosis
In clinical terms, sphingolipidosis is described as follows: A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.
Also known as
Classification
Ontology identifier: DOID:1927 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › lysosomal storage disease › lipid storage disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E75.3
- MeSH: D013106
- SNOMED CT: 58459009
Care at Weyland-Yutani Health System
Care for sphingolipidosis is coordinated through Endocrinology and Metabolism. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have sphingolipidosis, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Systemic primary carnitine deficiency disease
In clinical terms, systemic primary carnitine deficiency disease is described as follows: an amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
Also known as
- carnitine transporter deficiency
- carnitine uptake defect
- deficiency of plasma-membrane carnitine transporter
- primary carnitine deficiency
- renal carnitine transport defect
Classification
Ontology identifier: DOID:14365 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › amino acid metabolic disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E71.41
- ICD-9-CM: 277.81
- MeSH: C536778
- OMIM: 212140
- SNOMED CT: 21764004
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for systemic primary carnitine deficiency disease. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have systemic primary carnitine deficiency disease, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Thiamine deficiency disease
A nutritional deficiency disease that is characterized by low levels of thiamine. This page summarizes how thiamine deficiency disease is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:0070313 (Human Disease Ontology).
Classification path: disease of metabolism › acquired metabolic disease › nutrition disease › nutritional deficiency disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, thiamine deficiency disease is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about thiamine deficiency disease. Bring a list of current medications and any previous test results.
Reference links
Thyroid gland disease
thyroid gland disease: An endocrine system disease that is located_in the thyroid.
Classification
Ontology identifier: DOID:50 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E07.9
- ICD-9-CM: 246.9
- MeSH: D013959
- SNOMED CT: 14304000
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, thyroid gland disease is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Seek a medical evaluation if you are concerned about thyroid gland disease. Bring a list of current medications and any previous test results.
Reference links