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363039000: Congenital connective tissue disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of connective tissue (disorder)\Congenital connective tissue disorder

\Congenital disease (disorder)\Congenital connective tissue 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
1919991000052110 medfödd bindvävssjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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
syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning	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
aortaklaffringhypoplasi	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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This concept is not in any reference sets

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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
1919991000052110	medfödd bindvävssjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)