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723411003: Nasopalpebral lipoma coloboma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498159019 Nasopalpebral lipoma coloboma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498160012 Nasopalpebral lipoma coloboma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499901018 Syndrome with characteristics of nasopalpebral lipomas, bilateral eyelid coloboma, and telecanthus. It has been described in less than 30 patients. Other manifestations may include maxillary hypoplasia, hypertelorism, and dysmorphic features. It is transmitted as an autosomal dominant trait with complete penetrance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1020411000172110 syndrome de lipomes naso-palpébraux-colobome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
893801000172113 nasopalpebraal lipoom, coloboomsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Nasopalpebral lipoma coloboma syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) Is a Benign neoplasm of face true Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) Is a Coloboma of eyelid true Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) Is a Lipoma of head and neck false Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Nasopalpebral lipoma coloboma syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Nasopalpebral lipoma coloboma syndrome (disorder) Finding site Eyelid structure true Inferred relationship Some 2
Nasopalpebral lipoma coloboma syndrome (disorder) Associated morphology Lipoma morphology (morphologic abnormality) false Inferred relationship Some 3
Nasopalpebral lipoma coloboma syndrome (disorder) Finding site Face structure false Inferred relationship Some 3
Nasopalpebral lipoma coloboma syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Nasopalpebral lipoma coloboma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Nasopalpebral lipoma coloboma syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Nasopalpebral lipoma coloboma syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Nasopalpebral lipoma coloboma syndrome (disorder) Associated morphology Lipoma morphology (morphologic abnormality) true Inferred relationship Some 1
Nasopalpebral lipoma coloboma syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Nasopalpebral lipoma coloboma syndrome (disorder) Is a Lipoma of head true Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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