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720817008: Craniosynostosis Boston type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322169011 Craniosynostosis Boston type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322170012 Craniosynostosis Boston type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322171011 Craniosynostosis Warman type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322172016 Warman Mulliken Hayward syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402483010 Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402484016 Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterised by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322169011 Craniosynostosis Boston type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322170012 Craniosynostosis Boston type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322171011 Craniosynostosis Warman type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322172016 Warman Mulliken Hayward syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322173014 A form of syndromic craniosynostosis with characteristics of highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies has also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402483010 Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402484016 Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterised by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3427211001000110 Kraniosynostose Typ Boston de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980491000172119 craniosynostose type Warman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995741000172110 craniosynostose type Boston fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980491000172119 craniosynostose type Warman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
995741000172110 craniosynostose type Boston fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427211001000110 Kraniosynostose Typ Boston 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
Craniosynostosis Boston type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Is a Craniosynostosis syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis Boston type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis Boston type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis Boston type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis Boston type (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis Boston type (disorder) Finding site Joint structure of suture of skull false Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis Boston type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis Boston type (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Craniosynostosis Boston type (disorder) Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniosynostosis Boston type (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis Boston type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis Boston type (disorder) Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis Boston type (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis Boston type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniosynostosis Boston type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis Boston type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis Boston type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis Boston type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis Boston type (disorder) Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis Boston type (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis Boston type (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis Boston type (disorder) Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis Boston type (disorder) Is a Disease of skull true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Boston type (disorder) Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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