Endocrinology and Metabolism conditions, page 3 of 5
20 conditions on this page, alphabetically from Hypogonadotropic hypogonadism 23 with or without anosmia to Mucopolysaccharidosis III. Each entry below describes the condition in full.
On this page
Hypogonadotropic hypogonadism 23 with or without anosmia
hypogonadotropic hypogonadism 23 with or without anosmia: A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.
Also known as
- 46,XY disorder of sex development due to LHB deficiency
- 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
- 46,XY DSD due to LHB deficiency
- 46,XY DSD due to luteinizing hormone subunit beta deficiency
- fertile eunuch syndrome
- leydig cell hypoplasia due to LHB deficiency
- Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
- Pasqualini syndrome
Classification
Ontology identifier: DOID:0090091 (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: Q56.1
- OMIM: 228300
Care at Weyland-Yutani Health System
Treatment of hypogonadotropic hypogonadism 23 with or without anosmia 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
Seek a medical evaluation if you are concerned about hypogonadotropic hypogonadism 23 with or without anosmia. Bring a list of current medications and any previous test results.
Reference links
Hypogonadotropic hypogonadism 4 with or without anosmia
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. Our Endocrinology and Metabolism team evaluates and manages hypogonadotropic hypogonadism 4 with or without anosmia.
Classification
Ontology identifier: DOID:0090077 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E23.0
- OMIM: 610628
Care at Weyland-Yutani Health System
Care for hypogonadotropic hypogonadism 4 with or without anosmia 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 hypogonadotropic hypogonadism 4 with or without anosmia, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Hypogonadotropic hypogonadism 5 with or without anosmia
In clinical terms, hypogonadotropic hypogonadism 5 with or without anosmia is described as follows: A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12.
Classification
Ontology identifier: DOID:0090084 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E23.0
- OMIM: 612370
Care at Weyland-Yutani Health System
Treatment of hypogonadotropic hypogonadism 5 with or without anosmia 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
Questions about hypogonadotropic hypogonadism 5 with or without anosmia? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Hypogonadotropic hypogonadism 6 with or without anosmia
A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. This page summarizes how hypogonadotropic hypogonadism 6 with or without anosmia is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:0090086 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E23.0
- OMIM: 612702
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for hypogonadotropic hypogonadism 6 with or without anosmia. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about hypogonadotropic hypogonadism 6 with or without anosmia? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Hypothyroidism
A thyroid gland disease which involves an underproduction of thyroid hormone. Our Endocrinology and Metabolism team evaluates and manages hypothyroidism.
Also known as
- Thyroid deficiency
- Thyroid insufficiency
Classification
Ontology identifier: DOID:1459 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › thyroid gland disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E03.9
- ICD-9-CM: 244.9
- MeSH: D007037
- SNOMED CT: 267465007
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for hypothyroidism. 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 hypothyroidism. Bring a list of current medications and any previous test results.
Reference links
Inherited metabolic disorder
In clinical terms, inherited metabolic disorder is described as follows: A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Also known as
- Inborn Errors of Metabolism
- inborn metabolism disorder
- Metabolic hereditary disorder
Classification
Ontology identifier: DOID:655 (Human Disease Ontology).
Classification path: disease of metabolism.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- MeSH: D008661
- SNOMED CT: 86095007
Care at Weyland-Yutani Health System
Care for inherited metabolic disorder 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
Seek a medical evaluation if you are concerned about inherited metabolic disorder. Bring a list of current medications and any previous test results.
Reference links
Isolated growth hormone deficiency type IA
An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. Patients with isolated growth hormone deficiency type IA are cared for through our Endocrinology and Metabolism service line.
Also known as
- autosomal recessive isolated growth hormone deficiency
- IGHD IA
- Illig-type growth hormone deficiency
- pituitary dwarfism I
- primordial dwarfism
- sexual ateleiotic dwarfism
Classification
Ontology identifier: DOID:0060873 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › pituitary gland disease › hypopituitarism › isolated growth hormone deficiency.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E23.0
- OMIM: 262400
Care at Weyland-Yutani Health System
Treatment of isolated growth hormone deficiency type IA 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
Seek a medical evaluation if you are concerned about isolated growth hormone deficiency type IA. Bring a list of current medications and any previous test results.
Reference links
Kwashiorkor
A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. This page summarizes how kwashiorkor is classified and the care available at Weyland-Yutani Health System.
Also known as
- Kwashiokor
- Nutritional edema with dyspigmentation of skin and hair
- Nutritional oedema with dyspigmentation of skin and/or hair
Classification
Ontology identifier: DOID:13579 (Human Disease Ontology).
Classification path: disease of metabolism › acquired metabolic disease › nutrition disease › nutritional deficiency disease › protein-energy malnutrition.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E40
- ICD-9-CM: 260
- MeSH: D007732
- SNOMED CT: 154730001
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, kwashiorkor 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 kwashiorkor, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Lesch-Nyhan syndrome
In clinical terms, Lesch-Nyhan syndrome is described as follows: A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
Also known as
- Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
- deficiency of IMP pyrophosphorylase
- HG-PRT deficiency
- HPRT1 deficiency
- hypoxanthine guanine phosphoribosyltransferase deficiency
- Hypoxanthine-guanine phosphoribosyltransferase deficiency
- Hypoxanthine-guanine-phosphoribosyltransferase deficiency
- Lesch - Nyhan syndrome
- X-linked hyperuricemia
Classification
Ontology identifier: DOID:1919 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › X-linked monogenic disease › X-linked recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E79.1
- MeSH: D007926
- OMIM: 300322
- SNOMED CT: 190918000
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, Lesch-Nyhan syndrome 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 Lesch-Nyhan syndrome. Bring a list of current medications and any previous test results.
Reference links
Lipid storage disease
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. Patients with lipid storage disease are cared for through our Endocrinology and Metabolism service line.
Also known as
- inborn lipid storage disorder
- Lipoid storage diseas
- lipoidosis
Classification
Ontology identifier: DOID:9455 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › lysosomal storage disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E75.6
- ICD-9-CM: 272.7
- ICD-9-CM: 272.8
- MeSH: D008064
- SNOMED CT: 11455007
- SNOMED CT: 154744007
Care at Weyland-Yutani Health System
Care for lipid storage disease 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 lipid storage disease, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Lipoatrophic diabetes mellitus
A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. This page summarizes how lipoatrophic diabetes mellitus is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:11712 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › carbohydrate metabolic disorder › glucose metabolism disease › diabetes mellitus › type 2 diabetes mellitus.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- MeSH: D003923
- SNOMED CT: 408543001
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for lipoatrophic diabetes mellitus. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have lipoatrophic diabetes mellitus, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Lysosomal acid lipase deficiency
A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. Patients with lysosomal acid lipase deficiency are cared for through our Endocrinology and Metabolism service line.
Also known as
Classification
Ontology identifier: DOID:0080217 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- OMIM: PS278000
- SNOMED CT: 715923003
Care at Weyland-Yutani Health System
Care for lysosomal acid lipase deficiency 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
Seek a medical evaluation if you are concerned about lysosomal acid lipase deficiency. Bring a list of current medications and any previous test results.
Reference links
Lysosomal storage disease
An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. Patients with lysosomal storage disease are cared for through our Endocrinology and Metabolism service line.
Also known as
- disorder of lysosomal enzyme
- inborn lysosomal enzyme disorder
- lysosomal storage metabolism disorder
Classification
Ontology identifier: DOID:3211 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- MeSH: D016464
- SNOMED CT: 28821000119102
Care at Weyland-Yutani Health System
Treatment of lysosomal storage disease begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have lysosomal storage disease, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Marasmus
In clinical terms, marasmus is described as follows: A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation.
Also known as
- Nutritional atrophy
- Nutritional marasmus
Classification
Ontology identifier: DOID:12328 (Human Disease Ontology).
Classification path: disease of metabolism › acquired metabolic disease › nutrition disease › nutritional deficiency disease › protein-energy malnutrition.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- ICD-10-CM: E41
- ICD-9-CM: 261
- MeSH: D011502
- SNOMED CT: 154730001
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, marasmus is managed by Endocrinology and Metabolism with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
If you or a family member may have marasmus, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Mitchell syndrome
Mitchell syndrome: A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
Classification
Ontology identifier: DOID:0070516 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- OMIM: 618960
- SNOMED CT: 1300194008
Care at Weyland-Yutani Health System
Care for Mitchell syndrome 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
Questions about Mitchell syndrome? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Mitochondrial metabolism disease
mitochondrial metabolism disease: An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
Also known as
Classification
Ontology identifier: DOID:700 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- MeSH: D028361
- SNOMED CT: 240096000
Care at Weyland-Yutani Health System
Treatment of mitochondrial metabolism disease begins with an evaluation in Endocrinology and Metabolism. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have mitochondrial metabolism disease, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Mitochondrial trifunctional protein deficiency
mitochondrial trifunctional protein deficiency: A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.
Also known as
Classification
Ontology identifier: DOID:0111277 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- MeSH: C566945
- OMIM: PS609015
- SNOMED CT: 237999008
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, mitochondrial trifunctional protein deficiency 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 mitochondrial trifunctional protein deficiency? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Mixed gonadal dysgenesis
A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. This page summarizes how mixed gonadal dysgenesis is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:14449 (Human Disease Ontology).
Classification path: disease of anatomical entity › endocrine system disease › gonadal disease › disorder of sexual development › gonadal dysgenesis.
Specialty: Endocrinology and Metabolism
Broader conditions
Medical codes
- MeSH: D006060
- SNOMED CT: 205682006
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for mixed gonadal dysgenesis. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
If you or a family member may have mixed gonadal dysgenesis, contact your primary care provider or schedule a visit with Endocrinology and Metabolism.
Reference links
Mucopolysaccharidosis
A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. Our Endocrinology and Metabolism team evaluates and manages mucopolysaccharidosis.
Classification
Ontology identifier: DOID:12798 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › lysosomal storage disease.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: E76.3
- ICD-9-CM: 277.5
- MeSH: D009083
- OMIM: PS607014
- SNOMED CT: 267452003
Care at Weyland-Yutani Health System
Care for mucopolysaccharidosis 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
Questions about mucopolysaccharidosis? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links
Mucopolysaccharidosis III
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. This page summarizes how mucopolysaccharidosis III is classified and the care available at Weyland-Yutani Health System.
Also known as
- heparan sulfate sulfatase deficiency
- Mucopolysaccharidosis, MPS-III
- N-sulphoglucosamine sulphohydrolase deficiency
- Sanfilippo's syndrome
Classification
Ontology identifier: DOID:12801 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › lysosomal storage disease › mucopolysaccharidosis.
Specialty: Endocrinology and Metabolism
Broader conditions
More specific conditions
Medical codes
- MeSH: D009084
- SNOMED CT: 190936000
Care at Weyland-Yutani Health System
Endocrinology and Metabolism specialists lead care for mucopolysaccharidosis III. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about mucopolysaccharidosis III? Call your nearest Weyland-Yutani location and ask for Endocrinology and Metabolism.
Reference links