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715988005: Cataract with aberrant oral frenula and growth delay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304339018 Cataract with aberrant oral frenula and growth delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304340016 Cataract with aberrant oral frenula and growth delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304343019 Wellesley Carman French syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304341017 This syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304342012 This syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous haemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
912801000172110 syndrome de cataracte-freins buccaux anormaux-retard de croissance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
964181000172116 syndrome de Wellesley-Carman-French fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
889861000172113 cataract, afwijkend oraal frenulum, groeiachterstandsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
950071000172118 syndroom van Wellesley-Carman-French nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a Congenital cataract true Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 2
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Finding site Lens clear false Inferred relationship Some 2
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Finding site Face structure false Inferred relationship Some 3
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Finding site Lens clear true Inferred relationship Some 1
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 1
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 1
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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