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363045008: Connective tissue hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3038367019 Inherited disorder of connective tissue en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
482180014 Connective tissue hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

142 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Connective tissue hereditary disorder est un(e) (attribut) affection du tissu conjonctif true Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) Hereditary disorder by system false Inferred relationship Some
Connective tissue hereditary disorder localisation d'une constatation (attribut) Connective tissue structure true Inferred relationship Some 1
Connective tissue hereditary disorder localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) maladie héréditaire false Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) maladie héréditaire true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Pyknoachondrogenesis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
dystrophie cornéenne amorphe postérieure est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Pelvis shoulder dysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Pelviscapular dysplasia est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Lethal recessive chondrodysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Late-onset junctional epidermolysis bullosa (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cleidorhizomelic syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Stickler syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
X-linked mandibulofacial dysostosis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
chondrodysplasie dominante liée à l'X type Chassaing-Lacombe est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Temtamy syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Bartter syndrome type 4a (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrofrontofacionasal dysostosis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acropectoral syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrorenal mandibular syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrorenoocular syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrocraniofacial dysostosis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acropectorovertebral dysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrofacial dysostosis Catania type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrofacial dysostosis Palagonia type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
dysostose acrofaciale type Rodríguez est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Aniridia and absent patella syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Bone dysplasia Azouz type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cerebro-facio-thoracic dysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome coxo-podo-patellaire est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cranioosteoarthropathy (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniosynostosis Boston type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Czech dysplasia metatarsal type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Filippi syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Frank-Ter Haar syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
dysplasie phalango-épiphysaire en ailes d'anges est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome de Holt-Oram est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hall Riggs syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Diaphanospondylodysostosis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hypomandibular faciocranial dysostosis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Juberg Hayward syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Robinow-like syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome d'occlusion artérielle progressive avec hypertension, malformations cardiaques, fragilité osseuse et brachysyndactylie est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Blindness, scoliosis, arachnodactyly syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Lowry MacLean syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome oto-palato-digital type 2 (trouble) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome oto-palato-digital type 1 (trouble) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Oculootoradial syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some

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