Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: August 28, 2024

Preferred Name	Microcephaly, normal intelligence and immunodeficiency
Synonyms	Nijmegen breakage syndrome Seemanova syndrome II NBS - Nijmegen breakage syndrome
ID	http://purl.bioontology.org/ontology/RCD/X20Ie
altLabel	Nijmegen breakage syndrome Seemanova syndrome II NBS - Nijmegen breakage syndrome
cui	C0398791
notation	X20Ie
prefLabel	Microcephaly, normal intelligence and immunodeficiency
RID	YaRDC Y20qL Y20qM Y20qN
tui	T047
subClassOf	http://purl.bioontology.org/ontology/RCD/X20IW

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D049932	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10067857	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10067857	MDRGER	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000171677	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D049932	MSHFRE	CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000725398	PDQ	CUI
http://purl.bioontology.org/ontology/CSP/5005-0018	CRISP	CUI
http://purl.bioontology.org/ontology/OMIM/251260	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10067857	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/602667	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234638009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/234638009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234638009	SNOMEDCT	LOOM