Pallister-Hall syndrome

Preferred Label : Pallister-Hall syndrome;

MeSH definition : A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.;

MeSH synonym : syndrome, Pallister-Hall; hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly; pallister hall syndrome; cerebroacrovisceral early lethality complex; hypothalamic hamartoblastoma syndrome; hamartoblastoma syndrome, hypothalamic; hamartoblastoma syndromes, hypothalamic; hypothalamic hamartoblastoma syndromes; syndrome, hypothalamic hamartoblastoma; syndromes, hypothalamic hamartoblastoma; CAVE complex; CAVE complices; complex, CAVE; complices, CAVE; Hall-Pallister syndrome; hall pallister syndrome; syndrome, Hall-Pallister;

CISMeF synonym : Pallister-Hall; Pallister-Hall's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Cerebroacrovisceral early lethality complex;

Details

Origin ID

D054975;

UMLS CUI

C0265220;

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)
- Pallister-Hall syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Pallister Hall syndrome [Disease (Nov.)]
- Pallister-Hall Syndrome [NCIt concept]
- Pallister-Hall syndrome [DO Concept]
- Pallister-Hall syndrome [PASCAL descriptor]
- Pallister-Hall syndrome [ORDO Disease]
- Pallister-Hall syndrome (disorder) [SNOMED CT concept]
- Pallister-hall syndrome [OMIM Phenotype]
- pallister-hall syndrome [SNOMED Notion]
DO Cross reference
- Pallister-Hall syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy [ORDO Disease]
- Syndromic anorectal malformation [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
ORDO relation(s)
- Pallister-Hall syndrome [ORDO Disease]
Record concept(s)
- Pallister-Hall syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pallister Hall syndrome [Disease (Nov.)]
- Pallister-Hall Syndrome [NCIt concept]
- Pallister-Hall syndrome [ORDO Disease]
- Pallister-Hall syndrome [DO Concept]
- Pallister-Hall syndrome [PASCAL descriptor]
- Pallister-Hall syndrome (disorder) [SNOMED CT concept]
- Pallister-hall syndrome [OMIM Phenotype]
- pallister-hall syndrome [SNOMED Notion]

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