Craniofacioskeletal syndrome

Preferred Label : Craniofacioskeletal syndrome;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : X-linked dominant; X-linked recessive;

Laboratory abnormalities : Hypocalcemia (male); Normal calcium (female); Normal parathyroid hormone (female); Skewed X-inactivation in females;

Prefixed ID : %300712;

Détails

Origin ID

300712;

UMLS CUI

C2678036;

Currated CISMeF NLP mapping
- X-linked intellectual disability-craniofacioskeletal syndrome [ORDO Disease]
- craniofacioskeletal syndrome [MeSH concept]
- craniofacioskeletal syndrome [MeSH Supplementary Concept]
HPO term(s)
- Absent gallbladder [HPO term]
- Atrial septal defect [HPO term]
- Barrel-shaped chest [HPO term]
- Blepharophimosis [HPO term]
- Brachydactyly [HPO term]
- Cerebellar hypoplasia [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Global developmental delay [HPO term]
- Hydronephrosis [HPO term]
- Hypocalcemia [HPO term]
- Hypoplastic frontal sinuses [HPO term]
- Hypospadias [HPO term]
- Interrupted aortic arch [HPO term]
- Intrauterine growth retardation [HPO term]
- Large fontanelles [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Narrow iliac wing [HPO term]
- Patent ductus arteriosus [HPO term]
- Pes planus [HPO term]
- Posteriorly rotated ears [HPO term]
- Shield chest [HPO term]
- Short foot [HPO term]
- Short palm [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Thin upper lip vermilion [HPO term]
- Tracheal stenosis [HPO term]
- Triangular face [HPO term]
- Ventricular septal defect [HPO term]
- Wide intermamillary distance [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability-craniofacioskeletal syndrome [ORDO Disease]
See also inter- (CISMeF)
- X-linked intellectual disability, craniofacioskeletal syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked intellectual disability-craniofacioskeletal syndrome [ORDO Disease]
- craniofacioskeletal syndrome [MeSH Supplementary Concept]
- craniofacioskeletal syndrome [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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