wolf-hirschhorn syndrome

Preferred Label : wolf-hirschhorn syndrome;

MeSH definition : A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as Greek helmet face - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.;

MeSH synonym : wolf hirchhorn syndrome; syndrome, wolf-hirschhorn; wolf-hirchhorn syndrome; syndrome, wolf-hirchhorn; wolf hirschhorn syndrome; wolf syndrome; syndrome, wolf; partial monosomy 4p; 4p- syndrome; chromosome 4p deletion syndrome; chromosome 4p monosomy; Del(4p) syndrome; chromosome 4p syndrome; 4p syndrome, chromosome; 4p syndromes, chromosome; chromosome 4p syndromes; syndrome, chromosome 4p; syndromes, chromosome 4p; 4p deletion syndrome;

CISMeF synonym : Wolf-Hirschhorn; WH; wolf-hirschhorn's syndrome; chromosome region, Wolf-Hirschhorn; chromosome regions, Wolf-Hirschhorn; region, Wolf-Hirschhorn chromosome; regions, Wolf-Hirschhorn chromosome; wolf hirschhorn chromosome region; Wolf-Hirschhorn chromosome region; Wolf-Hirschhorn chromosome regions;

Wikipedia automatic translation : Wolf–Hirschhorn syndrome;

MeSH hyponym : Pitt-Rogers-Danks syndrome; Pitt Rogers Danks Syndrome; Syndrome, Pitt-Rogers-Danks; Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation; Pitt Syndrome; Pitt Syndromes; Syndrome, Pitt; Syndromes, Pitt;

Wikipedia link : https://en.wikipedia.org/wiki/Wolf–Hirschhorn syndrome;

Details

Origin ID

D054877;

UMLS CUI

C1956097;

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)
- Deletion of short arm of chromosome 4 [ICD-10 Sub-category]
- Deletion of short arm of chromosome 4 [ICD-10 Sub-category (who)]
- Pitt-Rogers-Danks syndrome [PASCAL descriptor]
- Pitt-Rogers-Danks syndrome [ICD-11 More detail]
- Pitt-Rogers-Danks syndrome [ORDO Disease]
- WH, Rat Strain [NCIt concept]
- Watt Hour [NCIt concept]
Currated CISMeF NLP mapping
- 4p partial monosomy syndrome [SNOMED Notion]
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Deletions of the short arm of chromosome 4 [ICD-11 Sub-sub category]
- Wolf Hirchhorn Syndrome [Disease (Nov.)]
- Wolf Hirschhorn syndrome (disorder) [SNOMED CT concept]
- Wolf-Hirschhorn Syndrome [NCIt concept]
- Wolf-Hirschhorn syndrome [PASCAL descriptor]
- Wolf-Hirschhorn syndrome [DO Concept]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-Hirschhorn syndrome [ICD-11 More detail]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- Wolf-hirschhorn syndrome [OMIM Phenotype]
DO Cross reference
- Wolf-Hirschhorn syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with cataract [ORDO Disease]
- Chromosomal anomaly with epilepsy as a major feature [ORDO Disease]
- Syndromic diaphragmatic or abdominal wall malformation [ORDO Disease]
- Syndromic diaphragmatic or thoracic malformation [ORDO Disease]
ORDO relation(s)
- Wolf-Hirschhorn syndrome [ORDO Disease]
Record concept(s)
- Pitt-Rogers-Danks syndrome [MeSH concept]
- Wolf-Hirschhorn syndrome [MeSH concept]
See also (suggested by CISMeF)
- chromosome deletion [MeSH Descriptor]
See also inter- (CISMeF)
- Pitt-Rogers-Danks syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4p partial monosomy syndrome [SNOMED Notion]
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
- Deletion of short arm of chromosome 4 [ICD-10 Sub-category]
- Wolf Hirchhorn Syndrome [Disease (Nov.)]
- Wolf Hirschhorn syndrome (disorder) [SNOMED CT concept]
- Wolf-Hirschhorn Syndrome [NCIt concept]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- Wolf-Hirschhorn syndrome [DO Concept]
- Wolf-Hirschhorn syndrome [PASCAL descriptor]
- Wolf-Hirschhorn syndrome [ICD-11 More detail]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-hirschhorn syndrome [OMIM Phenotype]

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