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723411003: syndrome de lipomes naso-palpébraux-colobome (trouble)


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
1020411000172110 syndrome de lipomes naso-palpébraux-colobome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
759381000241112 syndrome de lipomes naso-palpébraux-colobome (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
syndrome de lipomes naso-palpébraux-colobome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de lipomes naso-palpébraux-colobome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
syndrome de lipomes naso-palpébraux-colobome survenue (attribut) congénital true Inferred relationship Some 1
syndrome de lipomes naso-palpébraux-colobome morphologie associée (attribut) morphologie d'un lipome (anomalie morphologique) true Inferred relationship Some 1
syndrome de lipomes naso-palpébraux-colobome localisation d'une constatation (attribut) face true Inferred relationship Some 1
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) Lipoma of head true Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) Benign neoplasm of face true Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) Coloboma of eyelid true Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) Lipoma of head and neck false Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome survenue (attribut) congénital true Inferred relationship Some 2
syndrome de lipomes naso-palpébraux-colobome survenue (attribut) congénital false Inferred relationship Some 3
syndrome de lipomes naso-palpébraux-colobome localisation d'une constatation (attribut) paupière (structure corporelle) true Inferred relationship Some 2
syndrome de lipomes naso-palpébraux-colobome morphologie associée (attribut) morphologie d'un lipome (anomalie morphologique) false Inferred relationship Some 3
syndrome de lipomes naso-palpébraux-colobome localisation d'une constatation (attribut) face false Inferred relationship Some 3
syndrome de lipomes naso-palpébraux-colobome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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