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Results: 12

1.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
2.

Congenital amegakaryocytic thrombocytopenia

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later. [from OMIM]

MedGen UID:
272171
Concept ID:
C1327915
Disease or Syndrome
3.

Thrombocytopenia

A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen. [from NCI]

MedGen UID:
52737
Concept ID:
C0040034
Finding
4.

Amegakaryocytic thrombocytopenia

Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. [from HPO]

MedGen UID:
505707
Concept ID:
CN004304
Finding
5.

Thrombocytopenia

MedGen UID:
472158
Concept ID:
CN130080
Disease or Syndrome
6.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
7.

Developmental disorder

Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disorders. Or the problem can be both physical and mental, such as Down syndrome. The problems are usually life-long, and can affect everyday living. . There are many causes of developmental disabilities, including: -These cause conditions such as Down syndrome and Rett syndrome. -Prenatal exposure to substances. Drinking alcohol when pregnant can cause fetal alcohol spectrum disorders. -Certain viral infections during pregnancy. -Preterm birth. Often there is no cure, but treatment can help the symptoms. Treatments include physical, speech, and occupational therapy. Special education classes and psychological counseling can also help. NIH: National Institute of Child Health and Human Development.  [from MedlinePlus]

MedGen UID:
3367
Concept ID:
C0008073
Mental or Behavioral Dysfunction
8.

Congenital thrombocytopenia

Thrombocytopenia with congenital onset. [from HPO]

MedGen UID:
504999
Concept ID:
CN001723
Finding
9.

Anemia without thromobocytopenia, X-linked

XLANP is an X-linked recessive hematologic disorder characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia. Some patients may have low platelets or platelet abnormalities. The severity is variable. Some patients have shown a favorable response to corticosteroid treatment (summary by Hollanda et al., 2006 and Sankaran et al., 2012). [from OMIM]

MedGen UID:
463135
Concept ID:
C3151785
Disease or Syndrome
10.

Aplasia/Hypoplasia of the corpus callosum

Absence or underdevelopment of the corpus callosum. [from HPO]

MedGen UID:
425895
Concept ID:
CN006451
Finding
11.

Hypoplasia of the corpus callosum

MedGen UID:
342925
Concept ID:
C1853617
Finding
12.

Hypoplasia of the brainstem

MedGen UID:
337795
Concept ID:
C1847358
Finding

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