Pediatrics conditions, page 2 of 3
20 conditions on this page, alphabetically from Congenital sucrase-isomaltase deficiency to Multiple types of congenital heart defects 6. Each entry below describes the condition in full.
On this page
Congenital sucrase-isomaltase deficiency
Overview. A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. Weyland-Yutani Health System offers diagnosis and ongoing care for congenital sucrase-isomaltase deficiency.
Also known as
- congenital sucrase-isomaltose malabsorption
- congenital sucrose intolerance
- CSID
- disaccharide intolerance
- SI deficiency
Classification
Ontology identifier: DOID:0111633 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: E74.31
- MeSH: C538139
- OMIM: 222900
- SNOMED CT: 78373000
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for congenital sucrase-isomaltase deficiency. 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 congenital sucrase-isomaltase deficiency. Bring a list of current medications and any previous test results.
Reference links
Congenital syphilis
congenital syphilis: A syphilis that results_in a multisystem infection in the fetus via the placenta.
Classification
Ontology identifier: DOID:9856 (Human Disease Ontology).
Classification path: physical disorder.
Specialty: Pediatrics
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: A50
- ICD-9-CM: 090
- MeSH: D013590
- SNOMED CT: 154380005
Care at Weyland-Yutani Health System
Care for congenital syphilis is coordinated through Pediatrics. Your clinician will recommend tests and treatments based on your history and symptoms.
Treatment options
Diagnostic tests
When to seek care
Questions about congenital syphilis? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
COX deficiency, benign infantile mitochondrial myopathy
A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. Patients with COX deficiency, benign infantile mitochondrial myopathy are cared for through our Pediatrics service line.
Also known as
- Isolated cytochrome C oxidase deficiency
Classification
Ontology identifier: DOID:0081377 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › mitochondrial metabolism disease › cytochrome-c oxidase deficiency disease.
Specialty: Pediatrics
Broader conditions
Medical codes
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, COX deficiency, benign infantile mitochondrial myopathy is managed by Pediatrics 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 COX deficiency, benign infantile mitochondrial myopathy. Bring a list of current medications and any previous test results.
Reference links
Cryptophthalmia
Overview. A physical disorder characterized by ocular dysplasia with eyelid malformation. Weyland-Yutani Health System offers diagnosis and ongoing care for cryptophthalmia.
Also known as
Classification
Ontology identifier: DOID:0111716 (Human Disease Ontology).
Classification path: physical disorder.
Specialty: Pediatrics
Medical codes
- ICD-10-CM: Q11.2
- ICD-9-CM: 743.06
- SNOMED CT: 62589005
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, cryptophthalmia is managed by Pediatrics 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 cryptophthalmia, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Idiopathic juvenile osteoporosis
In clinical terms, idiopathic juvenile osteoporosis is described as follows: an osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
Also known as
- Idiopathic osteoporosis
- juvenile osteoporosis
Classification
Ontology identifier: DOID:12559 (Human Disease Ontology).
Classification path: disease of anatomical entity › musculoskeletal system disease › connective tissue disease › bone disease › bone remodeling disease › bone resorption disease › osteoporosis.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-9-CM: 733.02
- OMIM: 259750
- SNOMED CT: 3345002
Care at Weyland-Yutani Health System
Treatment of idiopathic juvenile osteoporosis begins with an evaluation in Pediatrics. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
Questions about idiopathic juvenile osteoporosis? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Infantile hypotonia with psychomotor retardation and characteristic facies-3
In clinical terms, infantile hypotonia with psychomotor retardation and characteristic facies-3 is described as follows: an autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24.
Also known as
- HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
- IHPRF3
- TBCK-related intellectual disability syndrome
Classification
Ontology identifier: DOID:0060935 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › autosomal recessive intellectual developmental disorder.
Specialty: Pediatrics
Broader conditions
Medical codes
- OMIM: 616900
- SNOMED CT: 1172628002
Care at Weyland-Yutani Health System
Treatment of infantile hypotonia with psychomotor retardation and characteristic facies-3 begins with an evaluation in Pediatrics. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about infantile hypotonia with psychomotor retardation and characteristic facies-3? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Infantile Refsum disease
A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. This page summarizes how infantile Refsum disease is classified and the care available at Weyland-Yutani Health System.
Also known as
- infantile phytanic acid storage disease
Classification
Ontology identifier: DOID:0050444 (Human Disease Ontology).
Classification path: disease of metabolism › inherited metabolic disorder › peroxisomal disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: G60.1
- MeSH: D052919
- SNOMED CT: 238062008
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for infantile Refsum disease. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about infantile Refsum disease? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Juvenile ankylosing spondylitis
juvenile ankylosing spondylitis: An ankylosing spondylitis with onset during childhood.
Classification
Ontology identifier: DOID:0040092 (Human Disease Ontology).
Classification path: disease of anatomical entity › musculoskeletal system disease › autoimmune disease of musculoskeletal system › ankylosing spondylitis.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: M08.1
- SNOMED CT: 201802002
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for juvenile ankylosing spondylitis. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about juvenile ankylosing spondylitis? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Large congenital melanocytic nevus
Overview. A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. Weyland-Yutani Health System offers diagnosis and ongoing care for large congenital melanocytic nevus.
Also known as
- Congenital pigmented nevus
- Giant congenital melanocytic nevus
- Giant pigmented hairy nevus
- GMN
- LCMN
Classification
Ontology identifier: DOID:0111359 (Human Disease Ontology).
Classification path: physical disorder.
Specialty: Pediatrics
Broader conditions
Medical codes
- MeSH: C536819
- OMIM: 137550
- SNOMED CT: 254815002
- SNOMED CT: 84953004
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, large congenital melanocytic nevus is managed by Pediatrics 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 large congenital melanocytic nevus, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Late congenital syphilis
Overview. A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. Weyland-Yutani Health System offers diagnosis and ongoing care for late congenital syphilis.
Also known as
Classification
Ontology identifier: DOID:10039 (Human Disease Ontology).
Classification path: physical disorder › congenital syphilis.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: A50.40
- ICD-10-CM: A50.5
- ICD-9-CM: 090.4
- ICD-9-CM: 090.5
- MeSH: D009494
- SNOMED CT: 187350002
- SNOMED CT: 4243004
Care at Weyland-Yutani Health System
Treatment of late congenital syphilis begins with an evaluation in Pediatrics. 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 late congenital syphilis. Bring a list of current medications and any previous test results.
Reference links
Leber congenital amaurosis
Overview. A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. Weyland-Yutani Health System offers diagnosis and ongoing care for Leber congenital amaurosis.
Also known as
- LCA
- Leber's amaurosis
- Leber's congenital amaurosis
- Leber's disease
Classification
Ontology identifier: DOID:14791 (Human Disease Ontology).
Classification path: physical disorder.
Specialty: Pediatrics
Broader conditions
More specific conditions
Medical codes
- MeSH: D057130
- OMIM: PS204000
- SNOMED CT: 193413001
Care at Weyland-Yutani Health System
Care for Leber congenital amaurosis is coordinated through Pediatrics. 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 Leber congenital amaurosis, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Leber congenital amaurosis 10
Overview. A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. Weyland-Yutani Health System offers diagnosis and ongoing care for Leber congenital amaurosis 10.
Also known as
Classification
Ontology identifier: DOID:0110291 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: H35.5
- MeSH: C565720
- OMIM: 611755
Care at Weyland-Yutani Health System
Care for Leber congenital amaurosis 10 is coordinated through Pediatrics. 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 Leber congenital amaurosis 10, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Leber congenital amaurosis 12
A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. This page summarizes how Leber congenital amaurosis 12 is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:0110080 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: H35.5
- MeSH: C565697
- OMIM: 610612
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for Leber congenital amaurosis 12. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about Leber congenital amaurosis 12? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Leber congenital amaurosis 13
A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. This page summarizes how Leber congenital amaurosis 13 is classified and the care available at Weyland-Yutani Health System.
Also known as
Classification
Ontology identifier: DOID:0110330 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: H35.5
- MeSH: C567197
- OMIM: 612712
Care at Weyland-Yutani Health System
Care for Leber congenital amaurosis 13 is coordinated through Pediatrics. 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 Leber congenital amaurosis 13, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Leber congenital amaurosis 15
Leber congenital amaurosis 15: A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.
Also known as
Classification
Ontology identifier: DOID:0110189 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: H35.5
- OMIM: 613843
Care at Weyland-Yutani Health System
Treatment of Leber congenital amaurosis 15 begins with an evaluation in Pediatrics. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
Questions about Leber congenital amaurosis 15? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Leber congenital amaurosis 5
A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. Our Pediatrics team evaluates and manages Leber congenital amaurosis 5.
Also known as
Classification
Ontology identifier: DOID:0110215 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: H35.5
- OMIM: 604537
Care at Weyland-Yutani Health System
Care for Leber congenital amaurosis 5 is coordinated through Pediatrics. 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 Leber congenital amaurosis 5. Bring a list of current medications and any previous test results.
Reference links
Lethal congenital contracture syndrome
A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. Patients with lethal congenital contracture syndrome are cared for through our Pediatrics service line.
Classification
Ontology identifier: DOID:0060558 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Pediatrics
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: Q68.8
- OMIM: PS253310
Care at Weyland-Yutani Health System
Treatment of lethal congenital contracture syndrome begins with an evaluation in Pediatrics. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
When to seek care
Questions about lethal congenital contracture syndrome? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Lethal congenital contracture syndrome 1
A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. Patients with lethal congenital contracture syndrome 1 are cared for through our Pediatrics service line.
Also known as
- LCCS1
- multiple contracture syndrome, Finnish type
Classification
Ontology identifier: DOID:0060559 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › lethal congenital contracture syndrome.
Specialty: Pediatrics
Broader conditions
Medical codes
- MeSH: C537194
- OMIM: 253310
- SNOMED CT: 715418007
Care at Weyland-Yutani Health System
Treatment of lethal congenital contracture syndrome 1 begins with an evaluation in Pediatrics. Follow-up visits track how you are responding to care.
Treatment options
Diagnostic tests
Related articles
When to seek care
Questions about lethal congenital contracture syndrome 1? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Meningocele
A spina bifida that is characterized by herniation of the meninges between the vertebrae. This page summarizes how meningocele is classified and the care available at Weyland-Yutani Health System.
Classification
Ontology identifier: DOID:1088 (Human Disease Ontology).
Classification path: physical disorder › neural tube defect › spina bifida.
Specialty: Pediatrics
Broader conditions
Medical codes
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for meningocele. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about meningocele? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Multiple types of congenital heart defects 6
A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. This page summarizes how multiple types of congenital heart defects 6 is classified and the care available at Weyland-Yutani Health System.
Also known as
- dextro-looped transposition of the great arteries 3
- DTGA3
Classification
Ontology identifier: DOID:0060772 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: Q20.3
- OMIM: 613854
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, multiple types of congenital heart defects 6 is managed by Pediatrics 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 multiple types of congenital heart defects 6, contact your primary care provider or schedule a visit with Pediatrics.
Reference links