Megalocornea - CISMeF

Preferred Label : Megalocornea;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Autosomal inheritance is much rarer than X-linked (309300). Megalocornea is often found in the Marfan syndrome (154700). *FIELD* SA Alaerts (1949); Bonhomme (1937); Gredig (1926); Klar (1940) *FIELD* RF 1. Alaerts, L.: Familial megalocornea. Bull. Soc. Belge Ophtal. 92: 322-326, 1949. 2. Bonhomme, F.: Un cas de megalocornee. Bull. Soc. Ophtal. Franc. 49: 184-190, 1937. 3. Gredig, C.: Eine neue Vererbungsart der Megalocornea. Arch. Klaus Stift. Vererbungsforsch. 2: 79-89, 1926. 4. Klar, R.: Beitraege zur Frage der Megalokornea auf Grund von Untersuchungen eines staroperierten Patienten und seiner Sippe. Klin. Monatsbl. Augenheilkd. 104: 286-299, 1940. *FIELD* CS;

Inheritance : Autosomal recessive much rarer than X-linked;

Prefixed ID : 249300;

Details

Origin ID

249300;

UMLS CUI

C5574682;

Automatic exact mappings (from CISMeF team)
- Megalocornea [ICD-11 More detail]
Currated CISMeF NLP mapping
- Isolated congenital megalocornea [ORDO Disease]
- Isolated congenital megalocornea (disorder) [SNOMED CT concept]
- Macrocornea [MedDRA Preferred Term]
- Megalocornea [PASCAL descriptor]
- Megalocornea [HPO term]
- Megalocornea [HRDO Sign]
- Megalocornea (disorder) [SNOMED CT concept]
- corneal enlargement [Disease (Nov.)]
- megalocornea [DO Concept]
- megalocornea [MeSH concept]
- megalocornea [MeSH Supplementary Concept]
DO Cross reference
- megalocornea [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Megalocornea [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital keratoglobus (disorder) [SNOMED CT concept]
- Isolated congenital megalocornea [ORDO Disease]
- Macrocornea [MedDRA Preferred Term]
- Megalocornea [HPO term]
- Megalocornea [HRDO Sign]
- Megalocornea [PASCAL descriptor]
- Megalocornea (disorder) [SNOMED CT concept]
- corneal enlargement [Disease (Nov.)]
- macrocornea [SNOMED Notion]
- megalocornea [MeSH Supplementary Concept]
- megalocornea [MeSH concept]
- megalocornea [DO Concept]

Keyword's position in hierarchy(ies) :

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