de lange syndrome

Preferred Label : de lange syndrome;

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 synonym : brachmann-de lange syndrome; de lange's syndrome; cornelia de lange syndrome; brachmann de lange syndrome; typus degenerativus amstelodamensis; amstelodamensis, typus degenerativus; syndrome, brachmann-de lange;

CISMeF synonym : De Lange; cornelia de lange syndrome 1; syndrome, de lange; syndrome, de lange's;

MeSH hyponym : cornelia de lange syndrome 2; Cornelia de Lange syndrome 3; CdLS, X-Linked; CdLS2; Cornelia de Lange Syndrome, X-Linked; Cornelia de Lange Syndrome, X Linked; CdLS, X Linked; CdLSs, X-Linked; X-Linked CdLS; X-Linked CdLSs;

Details

Origin ID

D003635;

UMLS CUI

C0270972;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- Cornelia de Lange syndrome 1 [DO Concept]
- Cornelia de Lange syndrome 2 [DO Concept]
- Cornelia de Lange syndrome 3 [DO Concept]
- De Lange syndrome [PASCAL descriptor]
- De Lange's syndrome [MedDRA LLT]
- De Vaal's syndrome (disorder) [SNOMED CT concept]
- Erotomania (disorder) [SNOMED CT concept]
- Langer Mesomelic Dysplasia [NCIt concept]
- X-Linked Cornelia De Lange Syndrome [NCIt concept]
- de Morsier's syndrome [MedDRA LLT]
Currated CISMeF NLP mapping
- Brachmann de Lange syndrome [Disease (Nov.)]
- Cornelia De Lange Syndrome [NCIt concept]
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ICD-11 More detail]
- Cornelia de Lange syndrome [MedDRA Preferred Term]
- Cornelia de Lange syndrome [ACR pathology]
- Cornelia de Lange syndrome [ORDO Disease]
- Cornelia de lange syndrome [OMIM phenotypic series]
- De Lange syndrome (disorder) [SNOMED CT concept]
- de lange syndrome [SNOMED Notion]
- de lange's syndrome [MedDRA Preferred Term]
DO Cross reference
- Cornelia de Lange syndrome [DO Concept]
Indexing information
- NIPBL protein, human [MeSH Supplementary Concept]
- nipbl protein, mouse [MeSH Supplementary Concept]
- nipblb protein, zebrafish [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Eyebrow hypertrophy [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Non-syndromic limb reduction defect [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndrome associated with Pierre Robin syndrome [ORDO Disease]
- Syndromic diaphragmatic or abdominal wall malformation [ORDO Disease]
- Syndromic diaphragmatic or thoracic malformation [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
ORDO relation(s)
- Cornelia de Lange syndrome [ORDO Disease]
Record concept(s)
- Cornelia de Lange Syndrome 1 [MeSH concept]
- Cornelia de Lange syndrome 3 [MeSH concept]
- cornelia de lange syndrome 2 [MeSH concept]
- de lange syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Brachmann-De Lange-Like facial changes with microcephaly, metatarsus adductus, and developmental delay [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachmann de Lange syndrome [Disease (Nov.)]
- Cornelia De Lange Syndrome [NCIt concept]
- Cornelia de Lange syndrome [ORDO Disease]
- Cornelia de Lange syndrome [DO Concept]
- Cornelia de Lange syndrome [ACR pathology]
- Cornelia de Lange syndrome [MedDRA Preferred Term]
- Cornelia de lange syndrome 1 [OMIM Phenotype]
- De Lange syndrome (disorder) [SNOMED CT concept]
- De Lange's syndrome [MedDRA LLT]
- de lange syndrome [SNOMED Notion]
- de lange's syndrome [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Cornelia de lange syndrome 1 [OMIM Phenotype]
- Cornelia de lange syndrome 2 [OMIM Phenotype]
- Cornelia de lange syndrome 3 with or without midline brain defects [OMIM Phenotype]
- X-Linked Cornelia De Lange Syndrome [NCIt concept]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]

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