Pediatrics conditions, page 1 of 3
20 conditions on this page, alphabetically from Autosomal recessive congenital ichthyosis 8 to Congenital stromal corneal dystrophy. Each entry below describes the condition in full.
On this page
Autosomal recessive congenital ichthyosis 8
Overview. An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. Weyland-Yutani Health System offers diagnosis and ongoing care for autosomal recessive congenital ichthyosis 8.
Also known as
- ARCI8
- lamellar ichthyosis 4
- late-onset lamellar ichthyosis
Classification
Ontology identifier: DOID:0060717 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease › autosomal recessive congenital ichthyosis.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: Q80.2
- OMIM: 613943
Care at Weyland-Yutani Health System
Treatment of autosomal recessive congenital ichthyosis 8 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
Seek a medical evaluation if you are concerned about autosomal recessive congenital ichthyosis 8. Bring a list of current medications and any previous test results.
Reference links
Breast juvenile papillomatosis
A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. Patients with breast juvenile papillomatosis are cared for through our Pediatrics service line.
Also known as
- Juvenile papillomatosis of the breast
Classification
Ontology identifier: DOID:6641 (Human Disease Ontology).
Classification path: disease of cellular proliferation › benign neoplasm › organ system benign neoplasm › thoracic benign neoplasm › breast benign neoplasm.
Specialty: Pediatrics
Broader conditions
Medical codes
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for breast juvenile papillomatosis. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about breast juvenile papillomatosis? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Cataract 46 juvenile-onset
A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. Our Pediatrics team evaluates and manages cataract 46 juvenile-onset.
Also known as
- CTRCT46
- juvenilae cataract Hutterite type
Classification
Ontology identifier: DOID:0110243 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: Q12.0
- OMIM: 212500
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, cataract 46 juvenile-onset 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 cataract 46 juvenile-onset. Bring a list of current medications and any previous test results.
Reference links
CHILD syndrome
A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. This page summarizes how CHILD syndrome is classified and the care available at Weyland-Yutani Health System.
Also known as
- CHILD nevus
- congenital hemidysplasia with ichthyosiform nevus and limbs defects
Classification
Ontology identifier: DOID:0111822 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › X-linked monogenic disease › X-linked dominant disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- MeSH: C562515
- OMIM: 308050
- SNOMED CT: 17608003
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, CHILD syndrome 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 CHILD syndrome, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Childhood absence epilepsy
A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. This page summarizes how childhood absence epilepsy is classified and the care available at Weyland-Yutani Health System.
Also known as
- petit mal seizure
- pyknolepsy
Classification
Ontology identifier: DOID:1825 (Human Disease Ontology).
Classification path: disease of anatomical entity › nervous system disease › central nervous system disease › brain disease › epilepsy › electroclinical syndrome › absence epilepsy › childhood electroclinical syndrome.
Specialty: Pediatrics
Broader conditions
Medical codes
- MeSH: D004832
- SNOMED CT: 163596002
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for childhood absence epilepsy. 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 childhood absence epilepsy, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Childhood-onset neurodegeneration with brain atrophy
A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. This page summarizes how childhood-onset neurodegeneration with brain atrophy is classified and the care available at Weyland-Yutani Health System.
Also known as
- childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- CONDBA
Classification
Ontology identifier: DOID:0070474 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- OMIM: 617672
- SNOMED CT: 1167373005
Care at Weyland-Yutani Health System
Treatment of childhood-onset neurodegeneration with brain atrophy 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
If you or a family member may have childhood-onset neurodegeneration with brain atrophy, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Congenital central hypoventilation syndrome
congenital central hypoventilation syndrome: An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
Also known as
- CCHS
- central congenital hypoventilation syndrome
- congenital central alveolar hypoventilation syndrome
- Ondine curse
- Ondine syndrome
Classification
Ontology identifier: DOID:0060731 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: G47.3
- MeSH: C536209
- OMIM: 209880
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, congenital central hypoventilation syndrome 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 congenital central hypoventilation syndrome, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Congenital diarrhea 6
A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. This page summarizes how congenital diarrhea 6 is classified and the care available at Weyland-Yutani Health System.
Also known as
- chronic diarrhea due to guanylate cyclase 2C overactivity
- chronic diarrhoea due to guanylate cyclase 2C overactivity
- congenital diarrhoea 6
Classification
Ontology identifier: DOID:0060780 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: P78.3
- OMIM: 614616
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, congenital diarrhea 6 is managed by Pediatrics with support from imaging, laboratory and rehabilitation services where needed.
Treatment options
Diagnostic tests
When to seek care
Questions about congenital diarrhea 6? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Congenital diarrhea 7 with exudative enteropathy
A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24. Our Pediatrics team evaluates and manages congenital diarrhea 7 with exudative enteropathy.
Also known as
- congenital chronic diarrhea with exudative enteropathy
- congenital chronic diarrhea with protein-losing enteropathy
- congenital chronic diarrhoea with exudative enteropathy
- congenital chronic diarrhoea with protein-losing enteropathy
- congenital diarrhoea 7 with exudative enteropathy
Classification
Ontology identifier: DOID:0060778 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal recessive disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: P78.3
- OMIM: 615863
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for congenital diarrhea 7 with exudative enteropathy. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
When to seek care
Questions about congenital diarrhea 7 with exudative enteropathy? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Congenital disorder of glycosylation
A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. Our Pediatrics team evaluates and manages congenital disorder of glycosylation.
Also known as
- carbohydrate-deficient glycoprotein syndrome
Classification
Ontology identifier: DOID:5212 (Human Disease Ontology).
Classification path: physical disorder.
Specialty: Pediatrics
Broader conditions
More specific conditions
Medical codes
- MeSH: D018981
- SNOMED CT: 238049009
Care at Weyland-Yutani Health System
Treatment of congenital disorder of glycosylation 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
If you or a family member may have congenital disorder of glycosylation, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Congenital disorder of glycosylation type IId
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. Patients with congenital disorder of glycosylation type IId are cared for through our Pediatrics service line.
Also known as
Classification
Ontology identifier: DOID:0070256 (Human Disease Ontology).
Classification path: physical disorder › congenital disorder of glycosylation › congenital disorder of glycosylation type II.
Specialty: Pediatrics
Broader conditions
Medical codes
- MeSH: C535753
- OMIM: 607091
- SNOMED CT: 725587007
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for congenital disorder of glycosylation type IId. 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 congenital disorder of glycosylation type IId, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Congenital disorder of glycosylation type IIh
In clinical terms, congenital disorder of glycosylation type IIh is described as follows: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.
Also known as
- Carbohydrate deficient glycoprotein syndrome type IIh
- CDG IIh
- CDG2H
- CDGIIh
- COG8-CDG
- Congenital disorder of glycosylation type 2h
Classification
Ontology identifier: DOID:0070260 (Human Disease Ontology).
Classification path: physical disorder › congenital disorder of glycosylation › congenital disorder of glycosylation type II.
Specialty: Pediatrics
Broader conditions
Medical codes
- MeSH: C566987
- OMIM: 611182
- SNOMED CT: 717774004
Care at Weyland-Yutani Health System
Care for congenital disorder of glycosylation type IIh 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 congenital disorder of glycosylation type IIh. Bring a list of current medications and any previous test results.
Reference links
Congenital dyserythropoietic anemia type IIIa
In clinical terms, congenital dyserythropoietic anemia type IIIa is described as follows: A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23.
Also known as
- anaemia with multinucleated erythroblasts
- anemia with multinucleated erythroblasts
- CDA III
- CDA type 3
- CDA type III
- CDAN3
- Congenital dyserythropoietic anaemia type 3
- congenital dyserythropoietic anaemia type III
- Congenital dyserythropoietic anemia type 3
- hereditary benign erythroreticulosis
Classification
Ontology identifier: DOID:0111399 (Human Disease Ontology).
Classification path: genetic disease › monogenic disease › autosomal genetic disease › autosomal dominant disease.
Specialty: Pediatrics
Broader conditions
Medical codes
- MeSH: D000742
- OMIM: 105600
- SNOMED CT: 26409005
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, congenital dyserythropoietic anemia type IIIa 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 congenital dyserythropoietic anemia type IIIa, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Congenital heart block
Overview. An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. Weyland-Yutani Health System offers diagnosis and ongoing care for congenital heart block.
Classification
Ontology identifier: DOID:990 (Human Disease Ontology).
Classification path: disease of anatomical entity › thoracic disease › heart disease › heart conduction disease › atrioventricular block.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: Q24.6
- ICD-9-CM: 746.86
- MeSH: C535758
- OMIM: 234700
- SNOMED CT: 156924006
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for congenital heart block. 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 congenital heart block, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Congenital heart disease
congenital heart disease: A physical disorder that is characterized by problems with the heart's structure that are present at birth.
Also known as
- Congenital anomaly of heart
- congenital heart defect
- Congenital Heart Defects
- heart defect
- Heart Malformation
Classification
Ontology identifier: DOID:1682 (Human Disease Ontology).
Classification path: physical disorder.
Specialty: Pediatrics
Broader conditions
More specific conditions
Medical codes
- ICD-10-CM: Q24.9
- ICD-9-CM: 746.9
- MeSH: D006330
- SNOMED CT: 268315002
Care at Weyland-Yutani Health System
Care for congenital heart disease 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 congenital heart disease, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Congenital merosin-deficient muscular dystrophy 1A
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. Our Pediatrics team evaluates and manages congenital merosin-deficient muscular dystrophy 1A.
Also known as
- CMD1A
- congenital muscular dystrophy due to laminin alpha2 deficiency
- MDC1A
- Merosin-negative congenital muscular dystrophy
Classification
Ontology identifier: DOID:0110636 (Human Disease Ontology).
Classification path: physical disorder › congenital muscular dystrophy.
Specialty: Pediatrics
Broader conditions
Medical codes
- MeSH: C537384
- OMIM: 607855
- SNOMED CT: 787037000
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for congenital merosin-deficient muscular dystrophy 1A. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about congenital merosin-deficient muscular dystrophy 1A. Bring a list of current medications and any previous test results.
Reference links
Congenital muscular dystrophy
A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. Our Pediatrics team evaluates and manages congenital muscular dystrophy.
Classification
Ontology identifier: DOID:0050557 (Human Disease Ontology).
Classification path: physical disorder.
Specialty: Pediatrics
Broader conditions
More specific conditions
Medical codes
- ICD-9-CM: 359.0
- SNOMED CT: 193221009
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, congenital muscular dystrophy 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 congenital muscular dystrophy, contact your primary care provider or schedule a visit with Pediatrics.
Reference links
Congenital muscular dystrophy due to LMNA mutation
A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. Our Pediatrics team evaluates and manages congenital muscular dystrophy due to LMNA mutation.
Also known as
- congenital muscular dystrophy LMNA-related
- L-CMD
- LMNA-related congenital muscular dystrophy
Classification
Ontology identifier: DOID:0110640 (Human Disease Ontology).
Classification path: physical disorder › congenital muscular dystrophy.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: G71.2
- OMIM: 613205
Care at Weyland-Yutani Health System
Care for congenital muscular dystrophy due to LMNA mutation 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 muscular dystrophy due to LMNA mutation? Call your nearest Weyland-Yutani location and ask for Pediatrics.
Reference links
Congenital ptosis
congenital ptosis: A ptosis characterized by superior eyelid drop present at birth.
Classification
Ontology identifier: DOID:0060261 (Human Disease Ontology).
Classification path: disease of anatomical entity › nervous system disease › sensory system disease › eye disease › ptosis.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: Q10.0
- ICD-9-CM: 743.61
- SNOMED CT: 204197004
Care at Weyland-Yutani Health System
Pediatrics specialists lead care for congenital ptosis. Plans are tailored to each patient and reviewed regularly.
Treatment options
Diagnostic tests
Related articles
When to seek care
Seek a medical evaluation if you are concerned about congenital ptosis. Bring a list of current medications and any previous test results.
Reference links
Congenital stromal corneal dystrophy
congenital stromal corneal dystrophy: A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.
Also known as
- congenital hereditary stromal dystrophy
- CSCD
Classification
Ontology identifier: DOID:0060445 (Human Disease Ontology).
Classification path: disease of anatomical entity › nervous system disease › sensory system disease › eye disease › corneal disease › corneal dystrophy › stromal dystrophy.
Specialty: Pediatrics
Broader conditions
Medical codes
- ICD-10-CM: H18.5
- MeSH: C566452
- OMIM: 610048
Care at Weyland-Yutani Health System
At Weyland-Yutani Health System, congenital stromal corneal dystrophy is managed by Pediatrics 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 congenital stromal corneal dystrophy. Bring a list of current medications and any previous test results.
Reference links