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716007007: Cleft palate and cleft lip with deafness and sacral lipoma 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
3304399016 Lowry Yong syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304402015 Cleft palate and cleft lip with deafness and sacral lipoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304403013 Cleft palate and cleft lip with deafness and sacral lipoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304400011 This syndrome is characterized by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304401010 This syndrome is characterised by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocoele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. 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
Lowry Yong syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lowry Yong syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Lowry Yong syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lowry Yong syndrome morphologie associée (attribut) morphologie d'un lipome (anomalie morphologique) true Inferred relationship Some 3
Lowry Yong syndrome localisation d'une constatation (attribut) région sacrée true Inferred relationship Some 3
Lowry Yong syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Lowry Yong syndrome localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 6
Lowry Yong syndrome survenue (attribut) congénital false Inferred relationship Some 6
Lowry Yong syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 6
Lowry Yong syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Lowry Yong syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Lowry Yong syndrome a pour interprétation (attribut) altéré true Inferred relationship Some 5
Lowry Yong syndrome survenue (attribut) congénital true Inferred relationship Some 4
Lowry Yong syndrome est un(e) (attribut) Benign neoplasm of sacrococcygeal region true Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Sensorineural hearing loss false Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Cleft palate with cleft lip true Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Lipoma of lower back true Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Disorder of spinal region (disorder) false Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Disorder of abdominal segment of trunk (disorder) false Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Disorder of pelvic region of trunk (disorder) false Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Finding of sacral region (finding) true Inferred relationship Some
Lowry Yong syndrome localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 4
Lowry Yong syndrome interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 5
Lowry Yong syndrome interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Lowry Yong syndrome morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 7
Lowry Yong syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 10
Lowry Yong syndrome survenue (attribut) congénital false Inferred relationship Some 10
Lowry Yong syndrome localisation d'une constatation (attribut) Structure of internal part of mouth false Inferred relationship Some 10
Lowry Yong syndrome morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 9
Lowry Yong syndrome localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 7
Lowry Yong syndrome morphologie associée (attribut) morphologie d'un lipome (anomalie morphologique) false Inferred relationship Some 8
Lowry Yong syndrome localisation d'une constatation (attribut) région sacrée false Inferred relationship Some 8
Lowry Yong syndrome survenue (attribut) congénital false Inferred relationship Some 9
Lowry Yong syndrome localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 9
Lowry Yong syndrome est un(e) (attribut) Cleft lip false Inferred relationship Some
Lowry Yong syndrome est un(e) (attribut) Disorder of palate (disorder) false Inferred relationship Some
Lowry Yong syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Lowry Yong syndrome localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 1
Lowry Yong syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Lowry Yong syndrome survenue (attribut) congénital true Inferred relationship Some 2
Lowry Yong syndrome localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) true Inferred relationship Some 2
Lowry Yong syndrome survenue (attribut) congénital true Inferred relationship Some 1
Lowry Yong syndrome localisation d'une constatation (attribut) lèvre de la bouche (structure corporelle) false Inferred relationship Some 1
Lowry Yong syndrome localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 2
Lowry Yong syndrome morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 3
Lowry Yong syndrome survenue (attribut) congénital false Inferred relationship Some 3
Lowry Yong syndrome localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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