hallermann's syndrome

Preferred Label : hallermann's syndrome;

MeSH definition : An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed);

MeSH synonym : hallermann syndrome; syndrome, hallermann's; hallermann-streiff syndrome; syndrome, hallermann-streiff; hallermanns syndrome; hallermann streiff syndrome; hallermann streiff francois syndrome; francois dyscephalic syndrome; dyscephalic syndrome, francois; dyscephalic syndromes, francois; francois dyscephalic syndromes; syndrome, francois dyscephalic; syndromes, francois dyscephalic;

MeSH annotation : a form of craniofacial dysostosis with other abnorm; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Details

Origin ID

D006210;

UMLS CUI

C0018522;

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)
- Hallermann Streiff François syndrome [PASCAL descriptor]
- Hallermann-Streiff-François syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hallermann Streiff syndrome [Disease (Nov.)]
- Hallermann Syndrome [NCIt concept]
- Hallermann-Streiff syndrome [DO Concept]
- Hallermann-Streiff syndrome [ORDO Disease]
- Hallermann-Streiff syndrome (disorder) [SNOMED CT concept]
- Hallermann-streiff syndrome [OMIM Phenotype]
- hallermann-streiff syndrome [SNOMED Notion]
DO Cross reference
- Hallermann-Streiff syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Congenital absence of the eyebrow/eyelashes [ORDO Disease]
- Craniofacial anomaly with cataract [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Ectodermal malformation syndrome associated with ocular features [ORDO Disease]
- Genetic malformation syndrome with short stature [ORDO Disease]
- Malformation syndrome with short stature [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
Record concept(s)
- hallermann's syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- dennis fairhurst moore syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hallermann Syndrome [NCIt concept]
- Hallermann-Streiff syndrome [ORDO Disease]
- Hallermann-Streiff syndrome [DO Concept]
- Hallermann-Streiff syndrome (disorder) [SNOMED CT concept]
- Hallermann-streiff syndrome [OMIM Phenotype]
- hallermann-streiff syndrome [SNOMED Notion]

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