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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
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


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 Some
Temple Baraitser syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a Congenital anomaly of nail true Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a Mental retardation false Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a Hypoplasia of thumb true Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a Hypoplasia of lower limb true Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Temple Baraitser syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 3
Temple Baraitser syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Temple Baraitser syndrome (disorder) Finding site Toe structure false Inferred relationship Some 3
Temple Baraitser syndrome (disorder) Associated morphology Congenital hypoplasia false Inferred relationship Some 4
Temple Baraitser syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Temple Baraitser syndrome (disorder) Finding site Thumb structure false Inferred relationship Some 4
Temple Baraitser syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Temple Baraitser syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Temple Baraitser syndrome (disorder) Finding site Nail structure false Inferred relationship Some 5
Temple Baraitser syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Temple Baraitser syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Temple Baraitser syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Temple Baraitser syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Temple Baraitser syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Temple Baraitser syndrome (disorder) Finding site Thumb structure true Inferred relationship Some 2
Temple Baraitser syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Temple Baraitser syndrome (disorder) Finding site Toe structure true Inferred relationship Some 1
Temple Baraitser syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Temple Baraitser syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Temple Baraitser syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Temple Baraitser syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 3
Temple Baraitser syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Temple Baraitser syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Temple Baraitser syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Temple Baraitser syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Temple Baraitser syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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