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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
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
3038367019 Inherited disorder of connective tissue en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

146 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Connective tissue hereditary disorder (disorder) Is a Hereditary disease false Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a Disorder of connective tissue (disorder) true Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a Hereditary disorder by system false Inferred relationship Some
Connective tissue hereditary disorder (disorder) Finding site Connective tissue structure true Inferred relationship Some 1
Connective tissue hereditary disorder (disorder) Finding site Body system structure false Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial osteochondritis dissecans (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Brachyolmia type 1 Toledo type Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Brachydactyly type A1 (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Brachydactyly type A4 (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Brachydactyly type A6 (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Smith McCort dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Congenital bowing of long bone (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Heide syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondylocamptodactyly syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant spondylocostal dysostosis (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Multiple osteochondroma of long bone (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant brachyolmia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Enlarged parietal foramina (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acromesomelic dysplasia Maroteaux type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Mammary digital nail syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
DK phocomelia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Upington disease Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia Maroteaux type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Pyknoachondrogenesis (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Posterior amorphous corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Pelvis shoulder dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Pelviscapular dysplasia Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondylometaphyseal dysplasia Schmidt type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Lethal recessive chondrodysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Lethal Larsen-like syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Late-onset junctional epidermolysis bullosa (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Mesomelic dysplasia Kantaputra type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cleidorhizomelic syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Stickler syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
X-linked mandibulofacial dysostosis (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Temtamy syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Bartter syndrome type 4a (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrofrontofacionasal dysostosis (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acropectoral syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrorenal mandibular syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrocraniofacial dysostosis (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acropectorovertebral dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Campomelia Cumming type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrofacial dysostosis Catania type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrofacial dysostosis Palagonia type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrofacial dysostosis Rodriguez type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Aniridia and absent patella syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Bone dysplasia Azouz type Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cerebro-facio-thoracic dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Coxopodopatellar syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cranioosteoarthropathy (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some

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