Coloboma of macula with type b brachydactyly

Preferred Label : Coloboma of macula with type b brachydactyly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Apical dystrophy; Sorsby syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 120400;

Details

Origin ID

120400;

UMLS CUI

C1852752;

CISMeF manual mappings
- Coloboma of macula with brachydactyly type B syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Coloboma of macula - brachydactyly type B [ICD-11 More detail]
- Coloboma of macula type B brachydactyly [MeSH concept]
- Coloboma of macula-brachydactyly type B syndrome [ORDO Disease]
- coloboma of macula type B brachydactyly [MeSH Supplementary Concept]
HPO term(s)
- Absent distal phalanges [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid distal phalanx of the thumb [HPO term]
- Bifid thumb distal phalanx [HPO term]
- Broad distal phalanx of the thumb [HPO term]
- Coloboma [HPO term]
- Renal agenesis [HPO term]
- Type B brachydactyly [HPO term]
ORDO concept(s)
- Coloboma of macula-brachydactyly type B syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma of macula type B brachydactyly [MeSH concept]
- Coloboma of macula with brachydactyly type B syndrome (disorder) [SNOMED CT concept]
- Coloboma of macula-brachydactyly type B syndrome [ORDO Disease]
- coloboma of macula type B brachydactyly [MeSH Supplementary Concept]

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