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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
8q13 microdeletion syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Keutel syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Junctional epidermolysis bullosa non-Herlitz type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism Teebi type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial scaphocephaly syndrome McGillivray type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant osteopetrosis type 2 Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cryptomicrotia brachydactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniomicromelic syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniometadiaphyseal dysplasia wormian bone type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniolenticulosutural dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Congenital short costocoracoid ligament Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Omodysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism types I and III Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial Scheuermann disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Genochondromatosis type 2 Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Genetic lipodystrophy Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Short rib polydactyly syndrome type I Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia with Paget disease of bone syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial chondromalacia of patella Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Splenogonadal fusion, limb defect, micrognathia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Coxoauricular syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Bone dysplasia lethal Holmgren type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis fibular aplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Osteopenia, intellectual disability, sparse hair syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly and distal symphalangism syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Congenital hypoplasia of ulna and split foot syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Trigonocephaly, short stature, developmental delay syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Absent tibia, polydactyly, arachnoid cyst syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Banki syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Jeune thoracic dystrophy Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Long thumb brachydactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalopolysyndactyly type II Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Van den Bosch syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalopolysyndactyly type IV Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Summitt syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
46,XX disorder of sex development with skeletal anomalies syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Acral dystrophic epidermolysis bullosa Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Vitamin D-dependent rickets Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Goldenhar syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant tubulointerstitial disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cerebrofacioarticular syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Velofacioskeletal syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
White forelock with malformations syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Keipert syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloperipheral dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Handigodu type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia anauxetic type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cono-spondylar dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia with multiple dislocations Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Multicentric carpotarsal osteolysis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Otopalatodigital syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome classic type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome cardiac valvular type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome musculocontractural type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome progeroid type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome vascular-like type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Brittle cornea syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal systemic lupus erythematosus Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex due to exophilin 5 deficiency Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex due to BP230 deficiency Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial angiolipomatosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Leydig cell agenesis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Karyomegalic interstitial nephritis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Extensor tendons of finger anomalies Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Chronic respiratory distress with surfactant metabolism deficiency Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Inherited cutis laxa Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Perilipin 1 related familial partial lipodystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Aneurysm osteoarthritis syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hereditary vitreoretinopathy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Dysplasia epiphysealis hemimelica Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Metachondromatosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Meretoja syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Gelatinous droplike corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Carpotarsal osteochondromatosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier

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