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363045008: Connective tissue hereditary disorder (disorder)

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

Descriptions:

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

148 descendants. Search Descendants:

Expanded Value Set

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

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