Teebi-shaltout syndrome

Preferred Label : Teebi-shaltout syndrome;

Symbol : TBSH;

CISMeF acronym : TBSH;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage;

Inheritance : Autosomal recessive;

Prefixed ID : 272950;

Détails

Origin ID

272950;

UMLS CUI

C1848912;

Currated CISMeF NLP mapping
- Teebi Shaltout syndrome [MeSH concept]
- Teebi Shaltout syndrome (disorder) [SNOMED CT concept]
- Teebi-Shaltout syndrome [ORDO Disease]
- teebi shaltout syndrome [MeSH Supplementary Concept]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Camptodactyly [HPO term]
- Caudal appendage [HPO term]
- Cleft palate [HPO term]
- High, narrow palate [HPO term]
- Highly arched eyebrow [HPO term]
- Horseshoe kidney [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic helices [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Narrow forehead [HPO term]
- Narrow mouth [HPO term]
- Oligodontia [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Prominent forehead [HPO term]
- Prominent palatine ridges [HPO term]
- Ptosis [HPO term]
- Rocker bottom foot [HPO term]
- Scaphocephaly [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Slow-growing hair [HPO term]
- Small earlobe [HPO term]
- Smooth philtrum [HPO term]
- Sparse hair [HPO term]
- Syndactyly [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Turricephaly [HPO term]
- Ulnar deviation of the hand [HPO term]
- Underdeveloped nasal alae [HPO term]
- Ureteral stenosis [HPO term]
- Ventricular septal defect [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Teebi-Shaltout syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Teebi Shaltout syndrome [MeSH concept]
- Teebi Shaltout syndrome (disorder) [SNOMED CT concept]
- Teebi-Shaltout syndrome [ORDO Disease]
- teebi shaltout syndrome [MeSH Supplementary Concept]

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

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