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363039000: Congenital connective tissue disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482174018 Congenital connective tissue disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754818014 Congenital connective tissue disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

195 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital connective tissue disorder Is a Disorder of connective tissue (disorder) true Inferred relationship Some
Congenital connective tissue disorder Finding site Connective tissue structure false Inferred relationship Some
Congenital connective tissue disorder Finding site Structure of musculoskeletal system (body structure) false Inferred relationship Some
Congenital connective tissue disorder Finding site Connective tissue false Inferred relationship Some
Congenital connective tissue disorder Is a Congenital disease (disorder) true Inferred relationship Some
Congenital connective tissue disorder Occurrence Congenital false Inferred relationship Some
Congenital connective tissue disorder Occurrence Congenital true Inferred relationship Some 1
Congenital connective tissue disorder Finding site Connective tissue structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Is a False Congenital connective tissue disorder Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Pacman dysplasia (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Keutel syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Congenital short costocoracoid ligament (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Banki syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital trigger finger of right hand Is a False Congenital connective tissue disorder Inferred relationship Some
Congenital trigger finger of left hand (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Is a False Congenital connective tissue disorder Inferred relationship Some
Neonatal Marfan syndrome Is a True Congenital connective tissue disorder Inferred relationship Some
16q24.1 microdeletion syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Hypermobile Ehlers-Danlos syndrome (disorder) Is a False Congenital connective tissue disorder Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Extensor tendons of finger anomalies (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital hiatus hernia Is a False Congenital connective tissue disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Mandibuloacral dysostosis Is a True Congenital connective tissue disorder Inferred relationship Some
Hypoplasia of mitral valve annulus (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Aortic valve ring hypoplasia Is a False Congenital connective tissue disorder Inferred relationship Some
Tricuspid annulus hypoplasia Is a True Congenital connective tissue disorder Inferred relationship Some
Pulmonary valve ring hypoplasia Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital deformity of mitral valve annulus (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Allantoic cyst Is a True Congenital connective tissue disorder Inferred relationship Some
Radicular cyst Is a False Congenital connective tissue disorder Inferred relationship Some
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Dilatation of tricuspid annulus (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital malformation of vitreous humour Is a True Congenital connective tissue disorder Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Williams syndrome Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital Fanconi syndrome Is a True Congenital connective tissue disorder Inferred relationship Some
Developmental anomaly of bilateral pleurae (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital hypoplasia of annulus fibrosus of aorta (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some
Late congenital syphilitic osteochondropathy Is a True Congenital connective tissue disorder Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome Is a True Congenital connective tissue disorder Inferred relationship Some
Congenital trigger finger Is a True Congenital connective tissue disorder Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Congenital connective tissue disorder Inferred relationship Some
Familial articular hypermobility syndrome (disorder) Is a True Congenital connective tissue disorder Inferred relationship Some

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