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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
Cutaneous asthenia in dogs AND/OR cats (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cleidocranial dysostosis est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Fleck corneal dystrophy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Schnyder crystalline cornea dystrophy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Bovine hereditary syndactyly (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Pachydermoperiostosis syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
anémie de Fanconi (trouble) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrocephalosyndactyly type I est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
angiodysplasie ostéodystrophique est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Duane-radial ray syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Polyostotic fibrous dysplasia of bone est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Shwachman syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Tarsal-carpal coalition syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
3-M syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Congenital stromal corneal dystrophy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Surfactant dysfunction est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Auriculo-condylar syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
dysplasie acromicrique est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Brachydactyly syndrome type B (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Congenital dystrophia brevicollis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Branchiooculofacial syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
dysplasie spondylo-épiphysaire tardive (trouble) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Majeed syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Retinal detachment and occipital encephalocele est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Baller-Gerold syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Pulmonary interstitial glycogenosis est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Antley-Bixler syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Carpenter's syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Crouzon syndrome with acanthosis nigricans (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Marfan's syndrome est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Marden Walker syndrome est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Dermatosparaxis in cattle AND/OR sheep (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Atelosteogenesis est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Jackson-Weiss syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Macular corneal dystrophy est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
syndrome oto-onycho-péronéal est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial partial lipodystrophy type 2 (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial avascular necrosis of head of femur (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Autosomal recessive distal osteolysis syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Chondrodysplasia punctata Toriello type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Gnathodiaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Spondyloocular syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial osteochondritis dissecans (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Brachyolmia type 1 Toledo type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Brachydactyly type A1 (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Brachydactyly type A4 (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Brachydactyly type A6 (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Smith McCort dysplasia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Congenital bowing of long bone (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Heide syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondylocamptodactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Autosomal dominant spondylocostal dysostosis (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Multiple osteochondroma of long bone (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
spectre ostéolyse multicentrique-nodulose-arthropathie est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
brachyolmie autosomique dominante est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Enlarged parietal foramina (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
dysplasie acromésomélique type Maroteaux est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Mammary digital nail syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
DK phocomelia syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Upington disease est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
dysplasie spondylo-épiphysaire type Maroteaux est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some

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