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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 Is a Sensorineural hearing loss false Inferred relationship Some
Lowry Yong syndrome Is a Cleft palate with cleft lip true Inferred relationship Some
Lowry Yong syndrome Is a Congenital hearing disorder false Inferred relationship Some
Lowry Yong syndrome Is a Lipoma of lower back true Inferred relationship Some
Lowry Yong syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Lowry Yong syndrome Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Lowry Yong syndrome Is a Disorder of spinal region (disorder) false Inferred relationship Some
Lowry Yong syndrome Is a Disorder of abdominal segment of trunk false Inferred relationship Some
Lowry Yong syndrome Is a Disorder of pelvic region of trunk (disorder) false Inferred relationship Some
Lowry Yong syndrome Is a Finding of sacral region (finding) true Inferred relationship Some
Lowry Yong syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 4
Lowry Yong syndrome Interprets Hearing true Inferred relationship Some 5
Lowry Yong syndrome Interprets Functional observable false Inferred relationship Some
Lowry Yong syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 7
Lowry Yong syndrome Associated morphology Developmental anomaly false Inferred relationship Some 10
Lowry Yong syndrome Occurrence Congenital false Inferred relationship Some 10
Lowry Yong syndrome Finding site Structure of internal part of mouth false Inferred relationship Some 10
Lowry Yong syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 9
Lowry Yong syndrome Finding site Palatal structure false Inferred relationship Some 7
Lowry Yong syndrome Associated morphology Lipoma morphology (morphologic abnormality) false Inferred relationship Some 8
Lowry Yong syndrome Finding site Sacral region back structure (body structure) false Inferred relationship Some 8
Lowry Yong syndrome Occurrence Congenital false Inferred relationship Some 9
Lowry Yong syndrome Finding site Lip structure false Inferred relationship Some 9
Lowry Yong syndrome Is a Cleft lip false Inferred relationship Some
Lowry Yong syndrome Is a Disorder of palate (disorder) false Inferred relationship Some
Lowry Yong syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Lowry Yong syndrome Finding site Palatal structure true Inferred relationship Some 1
Lowry Yong syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Lowry Yong syndrome Occurrence Congenital true Inferred relationship Some 2
Lowry Yong syndrome Finding site Lip structure true Inferred relationship Some 2
Lowry Yong syndrome Occurrence Congenital true Inferred relationship Some 1
Lowry Yong syndrome Finding site Lip structure false Inferred relationship Some 1
Lowry Yong syndrome Finding site Palatal structure false Inferred relationship Some 2
Lowry Yong syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 3
Lowry Yong syndrome Occurrence Congenital false Inferred relationship Some 3
Lowry Yong syndrome Finding site Palatal structure false Inferred relationship Some 3
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 Associated morphology Lipoma morphology (morphologic abnormality) true Inferred relationship Some 3
Lowry Yong syndrome Finding site Sacral region back structure (body structure) true Inferred relationship Some 3
Lowry Yong syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Lowry Yong syndrome Finding site Bone structure of head false Inferred relationship Some 6
Lowry Yong syndrome Occurrence Congenital false Inferred relationship Some 6
Lowry Yong syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 6
Lowry Yong syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Lowry Yong syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Lowry Yong syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Lowry Yong syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Lowry Yong syndrome Has interpretation Impaired true Inferred relationship Some 5
Lowry Yong syndrome Occurrence Congenital true Inferred relationship Some 4
Lowry Yong syndrome Is a Benign neoplasm of sacrococcygeal region true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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