4p partial monosomy syndrome

Preferred Label : 4p partial monosomy syndrome;

Détails

Origin ID

D4-02042;

UMLS CUI

C1956097;

CISMeF manual mappings
- chromosome 4 short arm deletion [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 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 [MeSH concept]
- Wolf-Hirschhorn syndrome [MedDRA Preferred Term]
- Wolf-Hirschhorn syndrome [ORDO Disease]
- Wolf-hirschhorn syndrome [OMIM Phenotype]
- wolf-hirschhorn syndrome [MeSH Descriptor]
ICD-10 exact mapping(s)
- Deletion of short arm of chromosome 4 [ICD-10 Sub-category (who)]
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]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- 4p partial monosomy syndrome (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Wolf-Hirschhorn syndrome [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [MeSH concept]
- 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]
- wolf-hirschhorn syndrome [MeSH Descriptor]

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