Preferred Name

De Lange Syndrome [Disease/Finding]

Synonyms

Brachmann-De Lange Syndrome

ID

http://purl.bioontology.org/ontology/NDFRT/N0000000900

altLabel

Brachmann-De Lange Syndrome

Cornelia De Lange Syndrome

De Lange Syndrome

Typus Degenerativus Amstelodamensis

De Lange's Syndrome

Cornelia de Lange Syndrome 1

cui

C0270972

MESH DEFINITION

A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

MESH DUI

D003635

MeSH name

De Lange Syndrome

MESH UI

M0005689

NDFRT kind

DISEASE_KIND

notation

N0000000900

NUI

N0000000900

prefLabel

De Lange Syndrome [Disease/Finding]

SNOMED CID

55016009

40354009

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000000266

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http://purl.bioontology.org/ontology/MEDDRA/10077707 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.1 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/122470 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1354-8678 CRISP CUI
http://purl.bioontology.org/ontology/RCD/PKy60 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/40354009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-00211 SNMI CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10056354 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D003635 MESH CUI
http://purl.bioontology.org/ontology/CSP/2403-8925 CRISP CUI