Fryns syndrome

Preferred Label : Fryns syndrome;

Symbol : FRNS;

CISMeF acronym : FRNS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Diaphragmatic hernia, abnormal face, and distal limb anomalies;

Description : Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period (Alessandri et al., 2005). Fryns (1987) reviewed the syndrome.;

Inheritance : Autosomal recessive;

Prefixed ID : %229850;

Details

Origin ID

229850;

UMLS CUI

C0220730;

Automatic exact mappings (from CISMeF team)
- Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) [SNOMED CT concept]
- Fryns syndrome [PASCAL descriptor]
- Fryns syndrome [MedDRA Preferred Term]
- Fryns syndrome [ICD-11 More detail]
- Nephrotic Syndrome - Frequently Relapsing [NCIt concept]
Currated CISMeF NLP mapping
- Fryns Syndrome [NCIt concept]
- Fryns syndrome [MeSH concept]
- Fryns syndrome [ORDO Disease]
- fryns syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal helix morphology [HPO term]
- Aganglionic megacolon [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Anonychia [HPO term]
- Anteverted nares [HPO term]
- Aplasia of the left hemidiaphragm [HPO term]
- Arrhinencephaly [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Bifid scrotum [HPO term]
- Blepharophimosis [HPO term]
- Broad neck [HPO term]
- Broad ribs [HPO term]
- Camptodactyly [HPO term]
- Chylothorax [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coarse facial features [HPO term]
- Congenital vertical talus [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Duodenal atresia [HPO term]
- Ectopic pancreatic tissue [HPO term]
- Esophageal atresia [HPO term]
- Facial hirsutism [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of olfactory tract [HPO term]
- Hypoplasia of the optic tract [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Joint contracture of the hand [HPO term]
- Large for gestational age [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Meckel diverticulum [HPO term]
- Microphthalmia [HPO term]
- Microretrognathia [HPO term]
- Narrow palpebral fissure [HPO term]
- Omphalocele [HPO term]
- Opacification of the corneal stroma [HPO term]
- Polyhydramnios [HPO term]
- Polysplenia [HPO term]
- Prominent fingertip pads [HPO term]
- Proximal placement of thumb [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal agenesis [HPO term]
- Renal cyst [HPO term]
- Rocker bottom foot [HPO term]
- Seizure [HPO term]
- Shawl scrotum [HPO term]
- Short distal phalanx of finger [HPO term]
- Short neck [HPO term]
- Short thumb [HPO term]
- Single transverse palmar crease [HPO term]
- Small nail [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Tented upper lip vermilion [HPO term]
- Thin ribs [HPO term]
- Thoracic hypoplasia [HPO term]
- Ureteral duplication [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Fryns syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) [SNOMED CT concept]
- Fryns Syndrome [NCIt concept]
- Fryns syndrome [ORDO Disease]
- Fryns syndrome [MeSH concept]
- Fryns syndrome [MedDRA Preferred Term]
- fryns syndrome [MeSH Supplementary Concept]

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