Preferred Name

Reticular dysgenesis
Synonyms

Reticular dysgenesia

Congenital aleukia

De Vaal disease

Generalized hematopoietic hypoplasia

Immunoerythromyeloid hypoplasia

SCID - Severe combined immunodeficiency, neutropaenia and thrombocytopaenia

Severe combined immunodeficiency, neutropaenia and thrombocytopaenia

Generalised haematopoietic hypoplasia

Reticular dysgenesis (disorder)
ID

111584000
Full Id

http://purl.bioontology.org/ontology/SNOMEDCT/111584000
CONCEPTSTATUS

0
CTV3ID

X20HI
has_clinical_course

Courses
has_definitional_manifestation

Neutropenia

White blood cell finding
has_finding_site

Structure of immune system
has_severity

Severities
isa

Congenital neutropenia

SCID due to absent peripheral T cell maturation

Hereditary white blood cell disorder

Disorder of immune structure
ISPRIMITIVE

1
occurs_in

Congenital
Semantic_Type

Disease or Syndrome
SNOMEDID

DC-41250
SYNONYM FN

Reticular dysgenesis (disorder)
SYNONYM SY

Reticular dysgenesia

Congenital aleukia

De Vaal disease

Generalized hematopoietic hypoplasia

Immunoerythromyeloid hypoplasia

SCID - Severe combined immunodeficiency, neutropaenia and thrombocytopaenia

Severe combined immunodeficiency, neutropaenia and thrombocytopaenia
SYNONYM SYGB

Generalised haematopoietic hypoplasia
TUI

T047
UMLS_CUI

C0272167
Create New Mapping

Mapping To Ontology Source Comment Relationship Added By Added On Notes
http://www.orphanet.org/rdfns#pat_id_10318 Experimental Factor Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Reticular_Dysgenesis NCI Thesaurus NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DIS_2264 Immune Disorder Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/C538361 Medical Subject Headings (MeSH) NLM UMLS (CUI) CUI: C0272167 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/267500 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0272167 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/CSP/1560-6660 CRISP Thesaurus, 2006 NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_0060020 Neuroscience Information Framework Standard ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_0060020 Human disease ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DIS_0996 Immune Disorder Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/267500 Online Mendelian Inheritance in Man NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://www.orphanet.org/rdfns#pat_id_10318 Orphanet Ontology of Rare Diseases NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://bioonto.de/mesh.owl#C538361 OWL Version of MeSH NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/X20HI Read Codes, Clinical Terms Version 3 (CTV3) NLM UMLS (CUI) CUI: C0272167 skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/242880 Online Mendelian Inheritance in Man NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/RCD/X20HI Read Codes, Clinical Terms Version 3 (CTV3) NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/MSH/C538361 Medical Subject Headings (MeSH) NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/CSP/1560-6660 CRISP Thesaurus, 2006 NLM UMLS (CUI) CUI: C0272167 skos:closeMatch loom 04/02/13 View Notes
http://purl.obolibrary.org/obo/DOID_0060020 NIF Dysfunction NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes
http://purl.bioontology.org/ontology/OMIM/242880 Online Mendelian Inheritance in Man NLM UMLS (CUI) CUI: C0272167 skos:closeMatch loom 04/02/13 View Notes
http://www.owl-ontologies.com/NPOntology.owl#DOID_0060020 Natural Products Ontology NCBO (lexical mapping) skos:closeMatch loom 04/02/13 View Notes

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