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1335869007: Cleft palate, congenital heart defect, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5361750010 Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5361751014 Cleft palate, congenital heart defect, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5361752019 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5361750010 Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5361751014 Cleft palate, congenital heart defect, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5361752019 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. 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
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a Cleft palate true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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