Other congenital malformations of eyelid

Preferred Label : Other congenital malformations of eyelid;

Inclusion CIM-10 : Coloboma of eyelid; Blepharophimosis, congenital; Ablepharon; Congenital absence or agenesis of eyelid; Congenital absence or agenesis of cilia; Congenital malformation of eyelid NOS; Congenital accessory eye muscle; Congenital accessory eyelid;

Associé à un acte opératoire (%) : 90.0;

Diag associé à un acte (%) : 98.4;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q103;

UMLS CUI

C0477978;

Automatic exact mappings (from CISMeF team)
- Ablepharon [HPO term]
- Blepharophimosis congenital [MedDRA Preferred Term]
- Coloboma of eyelid (disorder) [SNOMED CT concept]
- Coloboma of the Eyelid [NCIt concept]
- Congenital blepharophimosis [ICD-11 More detail]
- Congenital eyelid malformation [MedDRA Preferred Term]
- Congenital eyelid malformation NOS [MedDRA LLT]
- Eyelid coloboma [HPO term]
- Eyelid malformation, congenital NOS [MedDRA LLT]
Excluded by
- Excessive and redundant skin and subcutaneous tissue [ICD-10 Sub-category]
- Other disorders of eyelid [ICD-10 category]
Manual NTBT mappings (CISMeF)
- Congenital blepharophimosis of lower eyelid (disorder) [SNOMED CT concept]
- Congenital blepharophimosis of upper eyelid (disorder) [SNOMED CT concept]
- Hypospadias-hypertelorism-coloboma and deafness syndrome [ORDO Disease]
Orphanet concepts
- Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome [ORDO Disease]
- Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome [ORDO Disease]
- Blepharophimosis-epicanthus inversus-ptosis due to copy number variations [ORDO Disease]
- Blepharophimosis-ptosis-epicanthus inversus syndrome [ORDO Disease]
- Coloboma of eyelid [ORDO Disease]
- Coloboma of inferior eyelid [ORDO Disease]
- Coloboma of superior eyelid [ORDO Disease]
- Congenital eyelid retraction [ORDO Disease]
- Epiblepharon [ORDO Disease]
- Epicanthal fold [ORDO Disease]
- Isolated ankyloblepharon filiforme adnatum [ORDO Disease]
- Isolated distichiasis [ORDO Disease]
- Microblepharon-ablephara syndrome [ORDO Disease]
- Nasopalpebral lipoma-coloboma syndrome [ORDO Disease]
- Syndromic outer canthal malposition [ORDO Disease]
- Syndromic telecanthus [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to BTNT
- Ablepharon (disorder) [SNOMED CT concept]
- Coloboma of eyelid [ORDO Disease]
- Congenital blepharophimosis (disorder) [SNOMED CT concept]

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