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725140007: Temple Baraitser syndrome (disorder)


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
3439392012 Temple Baraitser syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439393019 Temple Baraitser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439394013 Severe intellectual disability, hypoplasia of thumb and hallux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403412017 A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439392012 Temple Baraitser syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439393019 Temple Baraitser syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439394013 Severe intellectual disability, hypoplasia of thumb and hallux syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3439395014 A rare developmental anomaly syndrome with characteristics of severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403412017 A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3388041001000118 Temple-Baraitser-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388041001000118 Temple-Baraitser-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Temple Baraitser syndrome (disorder) Is a Congenital anomaly of toe true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a Congenital anomaly of nail true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a Hypoplasia of thumb true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a Hypoplasia of lower limb true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Temple Baraitser syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Temple Baraitser syndrome (disorder) Finding site Toe structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Temple Baraitser syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Temple Baraitser syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Temple Baraitser syndrome (disorder) Finding site Thumb structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Temple Baraitser syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Temple Baraitser syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Temple Baraitser syndrome (disorder) Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Temple Baraitser syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Temple Baraitser syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Temple Baraitser syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Temple Baraitser syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Temple Baraitser syndrome (disorder) Finding site Thumb structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Temple Baraitser syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Temple Baraitser syndrome (disorder) Finding site Toe structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Temple Baraitser syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Temple Baraitser syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Temple Baraitser syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Temple Baraitser syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Temple Baraitser syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Temple Baraitser syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Temple Baraitser syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
Temple Baraitser syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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