Human Phenotype Ontology

Last uploaded: August 13, 2024
Preferred Name

Congenital hypoplastic anemia
Synonyms

Congenital dyserythropoietic anaemia

Congenital hypoplastic anaemia

Congenital dyserythropoietic anemia

Definitions

A type of hypoplastic anemia with congenital onset. In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature.

ID

http://purl.obolibrary.org/obo/HP_0004810

comment

In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature.

database_cross_reference

UMLS:C0002876

SNOMEDCT_US:88854002

SNOMEDCT_US:234371002

UMLS:C1260899

SNOMEDCT_US:52951008

definition

A type of hypoplastic anemia with congenital onset.

has_alternative_id

HP:0005545

has_exact_synonym

Congenital dyserythropoietic anaemia

Congenital hypoplastic anaemia

Congenital dyserythropoietic anemia

has_obo_namespace

human_phenotype

id

HP:0004810

label

Congenital hypoplastic anemia

notation

HP:0004810

prefLabel

Congenital hypoplastic anemia

treeView

http://purl.obolibrary.org/obo/HP_0001908

subClassOf

http://purl.obolibrary.org/obo/HP_0001908

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