Tukel syndrome

Preferred Label : Tukel syndrome;

CISMeF acronym : CFEOM-U; CFEOM4;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Fibrosis of extraocular muscles, congenital, with ulnar hand anomalies; CFEOM4; CFEOM-U; Fibrosis of extraocular muscles, congenital, 4;

Inheritance : Autosomal recessive;

Prefixed ID : %609428;

Détails

Origin ID

609428;

UMLS CUI

C1836217;

Automatic exact mappings (from CISMeF team)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
- Tukel syndrome [ICD-11 More detail]
- congenital fibrosis of the extraocular muscles [DO Concept]
Broader ORDO disease(s)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
Currated CISMeF NLP mapping
- Tukel syndrome [MeSH concept]
- tukel syndrome [MeSH Supplementary Concept]
DO Cross reference
- congenital fibrosis of the extraocular muscles [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Carpal bone aplasia [HPO term]
- Carpal synostosis [HPO term]
- Compensatory chin elevation [HPO term]
- Congenital fibrosis of extraocular muscles [HPO term]
- Nonprogressive restrictive external ophthalmoplegia [HPO term]
- Postaxial oligodactyly [HPO term]
- Ptosis [HPO term]
- Restrictive external ophthalmoplegia [HPO term]
- Restrictive ophthalmoplegia [HPO term]
- Syndactyly [HPO term]
ORDO concept(s)
- Congenital fibrosis of extraocular muscles [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tukel syndrome [MeSH concept]
- tukel syndrome [MeSH Supplementary Concept]

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

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