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363039000: Congenital connective tissue disorder (disorder)


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

Descriptions:

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


189 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 true Inferred relationship Existential restriction modifier
Congenital connective tissue disorder Finding site Connective tissue structure false Inferred relationship Existential restriction modifier
Congenital connective tissue disorder Finding site Structure of musculoskeletal system false Inferred relationship Existential restriction modifier
Congenital connective tissue disorder Finding site Connective tissue false Inferred relationship Existential restriction modifier
Congenital connective tissue disorder Is a Congenital disease true Inferred relationship Existential restriction modifier
Congenital connective tissue disorder Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital connective tissue disorder Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital connective tissue disorder Finding site Connective tissue structure true Inferred relationship Existential restriction modifier 1

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

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